WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13325760_13325761delinsCA , CM000686.2:g.13325760_13325761delinsCA | GRCh38 |
| NC_000024.9:g.15437640_15437641delinsCA , CM000686.1:g.15437640_15437641delinsCA | GRCh37 |
| NC_000024.8:g.13947034_13947035delinsCA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382896.9:c.2898+460_2898+461delinsTG | ENSP00000372352.5:n.2898+460_2898+461deli... | |
| ENST00000537580.6:c.2808+460_2808+461delinsTG | ENSP00000439922.2:n.2808+460_2808+461deli... | |
| ENST00000538878.6:c.2721+460_2721+461delinsTG | ENSP00000445274.2:n.2721+460_2721+461deli... | |
| ENST00000540140.6:c.2799+460_2799+461delinsTG | ENSP00000441943.2:n.2799+460_2799+461deli... | |
| ENST00000545955.6:c.2964+460_2964+461delinsTG MANE Select | ENSP00000442047.2:n.2964+460_2964+461deli... | |
| ENST00000612274.5:c.2808+460_2808+461delinsTG | ENSP00000485013.1:n.2808+460_2808+461deli... | |
| ENST00000617789.5:c.2829+460_2829+461delinsTG | ENSP00000483735.1:n.2829+460_2829+461deli... | |
| ENST00000618474.5:c.2424+460_2424+461delinsTG | ENSP00000484698.1:n.2424+460_2424+461deli... | |
| ENST00000682112.1:c.*132+460_*132+461delinsTG | ENSP00000508171.1:n.*132+460_*132+461deli... | |
| ENST00000682216.1:c.2673+460_2673+461delinsTG | ENSP00000507656.1:n.2673+460_2673+461deli... | |
| ENST00000682761.1:c.697+460_697+461delinsTG | ||
| ENST00000682913.1:c.2808+460_2808+461delinsTG | ENSP00000507736.1:n.2808+460_2808+461deli... | |
| ENST00000684226.1:c.1800+460_1800+461delinsTG | ENSP00000507919.1:n.1800+460_1800+461deli... | |
| ENST00000329134.9:c.2673+460_2673+461delinsTG | ENSP00000330446.5:n.2673+460_2673+461deli... | |
| ENST00000331397.8:c.2673+460_2673+461delinsTG | ENSP00000328939.4:n.2673+460_2673+461deli... | |
| ENST00000362096.8:c.2673+460_2673+461delinsTG | ENSP00000355420.4:n.2673+460_2673+461deli... | |
| ENST00000382896.8:c.2808+460_2808+461delinsTG | ENSP00000372352.4:n.2808+460_2808+461deli... | |
| ENST00000537580.5:c.2808+460_2808+461delinsTG | ENSP00000439922.2:n.2808+460_2808+461deli... | |
| ENST00000538878.5:c.2721+460_2721+461delinsTG | ENSP00000445274.2:n.2721+460_2721+461deli... | |
| ENST00000540140.5:c.2799+460_2799+461delinsTG | ENSP00000441943.2:n.2799+460_2799+461deli... | |
| ENST00000545955.5:c.2964+460_2964+461delinsTG | ENSP00000442047.2:n.2964+460_2964+461deli... | |
| ENST00000612274.4:c.2808+460_2808+461delinsTG | ENSP00000485013.1:n.2808+460_2808+461deli... | |
| ENST00000617789.4:c.2829+460_2829+461delinsTG | ENSP00000483735.1:n.2829+460_2829+461deli... | |
| ENST00000618474.4:c.2424+460_2424+461delinsTG | ENSP00000484698.1:n.2424+460_2424+461deli... | |
| ENST00000624098.3:c.2436+460_2436+461delinsTG | ENSP00000485539.2:n.2436+460_2436+461deli... | |
| NM_001258249.1:c.2964+460_2964+461delinsTG | NP_001245178.1:n.2964+460_2964+461delinsT... | |
| NM_001258250.1:c.2253+460_2253+461delinsTG | NP_001245179.1:n.2253+460_2253+461delinsT... | |
| NM_001258251.1:c.2721+460_2721+461delinsTG | NP_001245180.1:n.2721+460_2721+461delinsT... | |
| NM_001258252.1:c.2808+460_2808+461delinsTG | NP_001245181.1:n.2808+460_2808+461delinsT... | |
| NM_001258253.1:c.2721+460_2721+461delinsTG | NP_001245182.1:n.2721+460_2721+461delinsT... | |
| NM_001258254.1:c.2436+460_2436+461delinsTG | NP_001245183.1:n.2436+460_2436+461delinsT... | |
| NM_001258255.1:c.2436+460_2436+461delinsTG | NP_001245184.1:n.2436+460_2436+461delinsT... | |
| NM_001258256.1:c.2808+460_2808+461delinsTG | NP_001245185.1:n.2808+460_2808+461delinsT... | |
| NM_001258257.1:c.2301+460_2301+461delinsTG | NP_001245186.1:n.2301+460_2301+461delinsT... | |
| NM_001258258.1:c.2829+460_2829+461delinsTG | NP_001245187.1:n.2829+460_2829+461delinsT... | |
| NM_001258259.1:c.2625+460_2625+461delinsTG | NP_001245188.1:n.2625+460_2625+461delinsT... | |
| NM_001258260.1:c.2763+460_2763+461delinsTG | NP_001245189.1:n.2763+460_2763+461delinsT... | |
| NM_001258261.1:c.2799+460_2799+461delinsTG | NP_001245190.1:n.2799+460_2799+461delinsT... | |
| NM_001258262.1:c.2592+460_2592+461delinsTG | NP_001245191.1:n.2592+460_2592+461delinsT... | |
| NM_001258263.1:c.2673+460_2673+461delinsTG | NP_001245192.1:n.2673+460_2673+461delinsT... | |
| NM_001258264.1:c.2760+460_2760+461delinsTG | NP_001245193.1:n.2760+460_2760+461delinsT... | |
| NM_001258265.1:c.2424+460_2424+461delinsTG | NP_001245194.1:n.2424+460_2424+461delinsT... | |
| NM_001258266.1:c.2808+460_2808+461delinsTG | NP_001245195.1:n.2808+460_2808+461delinsT... | |
| NM_001258267.1:c.2673+460_2673+461delinsTG | NP_001245196.1:n.2673+460_2673+461delinsT... | |
| NM_001258268.1:c.2436+460_2436+461delinsTG | NP_001245197.1:n.2436+460_2436+461delinsT... | |
| NM_001258269.1:c.2526+460_2526+461delinsTG | NP_001245198.1:n.2526+460_2526+461delinsT... | |
| NM_001258270.1:c.2301+460_2301+461delinsTG | NP_001245199.1:n.2301+460_2301+461delinsT... | |
| NM_007125.4:c.2673+460_2673+461delinsTG | NP_009056.3:n.2673+460_2673+461delinsTG | |
| NM_182659.1:c.2673+460_2673+461delinsTG | NP_872600.1:n.2673+460_2673+461delinsTG | |
| NM_182660.1:c.2673+460_2673+461delinsTG | NP_872601.1:n.2673+460_2673+461delinsTG | |
| NR_047596.1:n.2905+460_2905+461delinsTG | ||
| NR_047597.1:n.3784+460_3784+461delinsTG | ||
| NR_047598.1:n.3914+460_3914+461delinsTG | ||
| NR_047599.1:n.3801+460_3801+461delinsTG | ||
| NR_047600.1:n.3602+460_3602+461delinsTG | ||
| NR_047601.1:n.3278+460_3278+461delinsTG | ||
| NR_047602.1:n.3643+460_3643+461delinsTG | ||
| NR_047603.1:n.3801+460_3801+461delinsTG | ||
| NR_047604.1:n.2771+460_2771+461delinsTG | ||
| NR_047605.1:n.2857+460_2857+461delinsTG | ||
| NR_047606.1:n.3041+460_3041+461delinsTG | ||
| NR_047607.1:n.4024+460_4024+461delinsTG | ||
| NR_047608.1:n.2992+460_2992+461delinsTG | ||
| NR_047609.1:n.3436+460_3436+461delinsTG | ||
| NR_047610.1:n.2905+460_2905+461delinsTG | ||
| NR_047611.1:n.3040+460_3040+461delinsTG | ||
| NR_047612.1:n.3196+460_3196+461delinsTG | ||
| NR_047613.1:n.3146+460_3146+461delinsTG | ||
| NR_047614.1:n.3109+460_3109+461delinsTG | ||
| NR_047615.1:n.2963+460_2963+461delinsTG | ||
| NR_047616.1:n.3019+460_3019+461delinsTG | ||
| NR_047617.1:n.3045+582_3045+583delinsTG | ||
| NR_047618.1:n.3687+460_3687+461delinsTG | ||
| NR_047619.1:n.2963+460_2963+461delinsTG | ||
| NR_047620.1:n.3040+460_3040+461delinsTG | ||
| NR_047621.1:n.3145+582_3145+583delinsTG | ||
| NR_047622.1:n.3097+460_3097+461delinsTG | ||
| NR_047623.1:n.3040+460_3040+461delinsTG | ||
| NR_047624.1:n.3898+460_3898+461delinsTG | ||
| NR_047625.1:n.2778+460_2778+461delinsTG | ||
| NR_047626.1:n.2905+460_2905+461delinsTG | ||
| NR_047627.1:n.3108+460_3108+461delinsTG | ||
| NR_047628.1:n.2953+460_2953+461delinsTG | ||
| NR_047629.1:n.2905+460_2905+461delinsTG | ||
| NR_047630.1:n.2905+460_2905+461delinsTG | ||
| NR_047631.1:n.2905+460_2905+461delinsTG | ||
| NR_047632.1:n.3386+460_3386+461delinsTG | ||
| NR_047633.1:n.2954+460_2954+461delinsTG | ||
| NR_047634.1:n.2904+582_2904+583delinsTG | ||
| NR_047635.1:n.3673+460_3673+461delinsTG | ||
| NR_047636.1:n.3043+460_3043+461delinsTG | ||
| NR_047637.1:n.3736+460_3736+461delinsTG | ||
| NR_047638.1:n.3744+460_3744+461delinsTG | ||
| NR_047639.1:n.2811+460_2811+461delinsTG | ||
| NR_047640.1:n.2889+582_2889+583delinsTG | ||
| NR_047641.1:n.3678+460_3678+461delinsTG | ||
| NR_047642.1:n.3678+460_3678+461delinsTG | ||
| NR_047643.1:n.3278+460_3278+461delinsTG | ||
| NR_047644.1:n.3871+460_3871+461delinsTG | ||
| NR_047645.1:n.3884+460_3884+461delinsTG | ||
| NR_047646.1:n.3551+460_3551+461delinsTG | ||
| NR_047647.1:n.3635+460_3635+461delinsTG | ||
| XM_005262518.2:c.2808+460_2808+461delinsTG | XP_005262575.1:n.2808+460_2808+461delinsT... | |
| XM_006724875.2:c.2964+460_2964+461delinsTG | XP_006724938.1:n.2964+460_2964+461delinsT... | |
| XM_006724876.2:c.2673+460_2673+461delinsTG | XP_006724939.1:n.2673+460_2673+461delinsT... | |
| XM_011531441.1:c.3012+460_3012+461delinsTG | XP_011529743.1:n.3012+460_3012+461delinsT... | |
| XM_011531442.1:c.2964+460_2964+461delinsTG | XP_011529744.1:n.2964+460_2964+461delinsT... | |
| XM_011531443.1:c.2946+460_2946+461delinsTG | XP_011529745.1:n.2946+460_2946+461delinsT... | |
| XM_011531444.1:c.2898+460_2898+461delinsTG | XP_011529746.1:n.2898+460_2898+461delinsT... | |
| XM_011531445.1:c.2877+460_2877+461delinsTG | XP_011529747.1:n.2877+460_2877+461delinsT... | |
| XM_011531446.1:c.2856+460_2856+461delinsTG | XP_011529748.1:n.2856+460_2856+461delinsT... | |
| XM_011531447.1:c.2829+460_2829+461delinsTG | XP_011529749.1:n.2829+460_2829+461delinsT... | |
| XM_011531448.1:c.2811+460_2811+461delinsTG | XP_011529750.1:n.2811+460_2811+461delinsT... | |
| XM_011531449.1:c.2808+460_2808+461delinsTG | XP_011529751.1:n.2808+460_2808+461delinsT... | |
| XM_011531450.1:c.2763+460_2763+461delinsTG | XP_011529752.1:n.2763+460_2763+461delinsT... | |
| XM_011531451.1:c.2721+460_2721+461delinsTG | XP_011529753.1:n.2721+460_2721+461delinsT... | |
| XM_011531452.1:c.2673+460_2673+461delinsTG | XP_011529754.1:n.2673+460_2673+461delinsT... | |
| XM_011531453.1:c.3012+460_3012+461delinsTG | XP_011529755.1:n.3012+460_3012+461delinsT... | |
| XM_011531454.1:c.3012+460_3012+461delinsTG | XP_011529756.1:n.3012+460_3012+461delinsT... | |
| XM_011531455.1:c.3012+460_3012+461delinsTG | XP_011529757.1:n.3012+460_3012+461delinsT... | |
| XM_011531456.1:c.3012+460_3012+461delinsTG | XP_011529758.1:n.3012+460_3012+461delinsT... | |
| XM_011531457.1:c.3012+460_3012+461delinsTG | XP_011529759.1:n.3012+460_3012+461delinsT... | |
| XM_011531458.1:c.2898+460_2898+461delinsTG | XP_011529760.1:n.2898+460_2898+461delinsT... | |
| XM_011531459.1:c.3012+460_3012+461delinsTG | XP_011529761.1:n.3012+460_3012+461delinsT... | |
| XM_011531460.1:c.3012+460_3012+461delinsTG | XP_011529762.1:n.3012+460_3012+461delinsT... | |
| XM_011531461.1:c.2964+460_2964+461delinsTG | XP_011529763.1:n.2964+460_2964+461delinsT... | |
| XM_011531462.1:c.2898+460_2898+461delinsTG | XP_011529764.1:n.2898+460_2898+461delinsT... | |
| XM_011531463.1:c.2856+460_2856+461delinsTG | XP_011529765.1:n.2856+460_2856+461delinsT... | |
| XM_011531464.1:c.2808+460_2808+461delinsTG | XP_011529766.1:n.2808+460_2808+461delinsT... | |
| XM_011531465.1:c.2721+460_2721+461delinsTG | XP_011529767.1:n.2721+460_2721+461delinsT... | |
| XM_011531466.1:c.2946+460_2946+461delinsTG | XP_011529768.1:n.2946+460_2946+461delinsT... | |
| XM_011531467.1:c.2856+460_2856+461delinsTG | XP_011529769.1:n.2856+460_2856+461delinsT... | |
| XR_938608.1:n.2546+460_2546+461delinsTG | ||
| XM_005262518.4:c.2808+460_2808+461delinsTG | XP_005262575.1:n.2808+460_2808+461delinsT... | |
| XM_006724875.4:c.2964+460_2964+461delinsTG | XP_006724938.1:n.2964+460_2964+461delinsT... | |
| XM_011531441.3:c.3012+460_3012+461delinsTG | XP_011529743.1:n.3012+460_3012+461delinsT... | |
| XM_011531442.3:c.2964+460_2964+461delinsTG | XP_011529744.1:n.2964+460_2964+461delinsT... | |
| XM_011531443.3:c.2946+460_2946+461delinsTG | XP_011529745.1:n.2946+460_2946+461delinsT... | |
| XM_011531445.3:c.2877+460_2877+461delinsTG | XP_011529747.1:n.2877+460_2877+461delinsT... | |
| XM_011531446.3:c.2856+460_2856+461delinsTG | XP_011529748.1:n.2856+460_2856+461delinsT... | |
| XM_011531447.3:c.2829+460_2829+461delinsTG | XP_011529749.1:n.2829+460_2829+461delinsT... | |
| XM_011531448.3:c.2811+460_2811+461delinsTG | XP_011529750.1:n.2811+460_2811+461delinsT... | |
| XM_011531449.3:c.2808+460_2808+461delinsTG | XP_011529751.1:n.2808+460_2808+461delinsT... | |
| XM_011531450.3:c.2763+460_2763+461delinsTG | XP_011529752.1:n.2763+460_2763+461delinsT... | |
| XM_011531451.3:c.2721+460_2721+461delinsTG | XP_011529753.1:n.2721+460_2721+461delinsT... | |
| XM_011531452.3:c.2673+460_2673+461delinsTG | XP_011529754.1:n.2673+460_2673+461delinsT... | |
| XM_011531453.3:c.3012+460_3012+461delinsTG | XP_011529755.1:n.3012+460_3012+461delinsT... | |
| XM_011531454.3:c.3012+460_3012+461delinsTG | XP_011529756.1:n.3012+460_3012+461delinsT... | |
| XM_011531455.3:c.3012+460_3012+461delinsTG | XP_011529757.1:n.3012+460_3012+461delinsT... | |
| XM_011531458.3:c.2898+460_2898+461delinsTG | XP_011529760.1:n.2898+460_2898+461delinsT... | |
| XM_011531459.3:c.3012+460_3012+461delinsTG | XP_011529761.1:n.3012+460_3012+461delinsT... | |
| XM_011531460.3:c.3012+460_3012+461delinsTG | XP_011529762.1:n.3012+460_3012+461delinsT... | |
| XM_011531461.3:c.2964+460_2964+461delinsTG | XP_011529763.1:n.2964+460_2964+461delinsT... | |
| XM_011531462.3:c.2898+460_2898+461delinsTG | XP_011529764.1:n.2898+460_2898+461delinsT... | |
| XM_011531463.3:c.2856+460_2856+461delinsTG | XP_011529765.1:n.2856+460_2856+461delinsT... | |
| XM_011531464.3:c.2808+460_2808+461delinsTG | XP_011529766.1:n.2808+460_2808+461delinsT... | |
| XM_011531465.3:c.2721+460_2721+461delinsTG | XP_011529767.1:n.2721+460_2721+461delinsT... | |
| XM_017030066.2:c.2898+460_2898+461delinsTG | XP_016885555.1:n.2898+460_2898+461delinsT... | |
| XM_017030067.2:c.2808+460_2808+461delinsTG | XP_016885556.1:n.2808+460_2808+461delinsT... | |
| XM_017030068.2:c.2673+460_2673+461delinsTG | XP_016885557.1:n.2673+460_2673+461delinsT... | |
| XM_017030070.2:c.3012+460_3012+461delinsTG | XP_016885559.1:n.3012+460_3012+461delinsT... | |
| XM_017030071.2:c.3012+460_3012+461delinsTG | XP_016885560.1:n.3012+460_3012+461delinsT... | |
| XM_017030072.2:c.2811+460_2811+461delinsTG | XP_016885561.1:n.2811+460_2811+461delinsT... | |
| XM_017030073.2:c.2721+460_2721+461delinsTG | XP_016885562.1:n.2721+460_2721+461delinsT... | |
| XM_017030074.2:c.2946+460_2946+461delinsTG | XP_016885563.1:n.2946+460_2946+461delinsT... | |
| XM_024452493.1:c.3012+460_3012+461delinsTG | XP_024308261.1:n.3012+460_3012+461delinsT... | |
| XM_024452494.1:c.2763+460_2763+461delinsTG | XP_024308262.1:n.2763+460_2763+461delinsT... | |
| XR_001756008.2:n.3028+460_3028+461delinsTG | ||
| XR_002958831.1:n.2411+460_2411+461delinsTG | ||
| NM_001258249.2:c.2964+460_2964+461delinsTG MANE Select | NP_001245178.1:n.2964+460_2964+461delinsT... | |
| NM_001400170.1:c.2808+460_2808+461delinsTG | NP_001387099.1:n.2808+460_2808+461delinsT... | |
| NM_001400171.1:c.2763+460_2763+461delinsTG | NP_001387100.1:n.2763+460_2763+461delinsT... | |
| NM_001400173.1:c.2673+460_2673+461delinsTG | NP_001387102.1:n.2673+460_2673+461delinsT... | |
| NM_001400175.1:c.2898+460_2898+461delinsTG | NP_001387104.1:n.2898+460_2898+461delinsT... | |
| NM_001400177.1:c.2898+460_2898+461delinsTG | NP_001387106.1:n.2898+460_2898+461delinsT... | |
| NM_001400178.1:c.2808+460_2808+461delinsTG | NP_001387107.1:n.2808+460_2808+461delinsT... | |
| NM_001400181.1:c.2673+460_2673+461delinsTG | NP_001387110.1:n.2673+460_2673+461delinsT... | |
| NM_001400183.1:c.2964+460_2964+461delinsTG | NP_001387112.1:n.2964+460_2964+461delinsT... | |
| NM_001400185.1:c.2898+460_2898+461delinsTG | NP_001387114.1:n.2898+460_2898+461delinsT... | |
| NM_001400187.1:c.2856+460_2856+461delinsTG | NP_001387116.1:n.2856+460_2856+461delinsT... | |
| NM_001400189.1:c.2811+460_2811+461delinsTG | NP_001387118.1:n.2811+460_2811+461delinsT... | |
| NM_001400192.1:c.2808+460_2808+461delinsTG | NP_001387121.1:n.2808+460_2808+461delinsT... | |
| NM_001400195.1:c.2763+460_2763+461delinsTG | NP_001387124.1:n.2763+460_2763+461delinsT... | |
| NM_001400199.1:c.2721+460_2721+461delinsTG | NP_001387128.1:n.2721+460_2721+461delinsT... | |
| NR_174404.1:n.2424+460_2424+461delinsTG | ||
| NR_174405.1:n.3041+460_3041+461delinsTG |