UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151078468_151078472delinsCAAAT , CM000667.2:g.151078468_151078472delinsCAAAT | GRCh38 |
| NC_000005.9:g.150458029_150458033delinsCAAAT , CM000667.1:g.150458029_150458033delinsCAAAT | GRCh37 |
| NC_000005.8:g.150438222_150438226delinsCAAAT | NCBI36 |
| NG_030590.1:g.14189_14193delinsATTTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000521591.6:c.-37+2408_-37+2412delinsATTTG MANE Select | ENSP00000430760.1:n.-37+2408_-37+2412deli... | |
| ENST00000610535.5:c.-37+2408_-37+2412delinsATTTG | ENSP00000483944.1:n.-37+2408_-37+2412deli... | |
| ENST00000315050.11:c.-37+8613_-37+8617delinsATTTG | ENSP00000317891.7:n.-37+8613_-37+8617deli... | |
| ENST00000389378.6:c.-37+2408_-37+2412delinsATTTG | ENSP00000374029.3:n.-37+2408_-37+2412deli... | |
| ENST00000518977.5:c.-37+2408_-37+2412delinsATTTG | ENSP00000430971.1:n.-37+2408_-37+2412deli... | |
| ENST00000520695.5:c.-37+1852_-37+1856delinsATTTG | ENSP00000430279.1:n.-37+1852_-37+1856deli... | |
| ENST00000520931.5:c.-24+2408_-24+2412delinsATTTG | ENSP00000429891.1:n.-24+2408_-24+2412deli... | |
| ENST00000521001.1:c.-36-13341_-36-13337delinsATTTG | ENSP00000428404.1:n.-36-13341_-36-13337de... | |
| ENST00000521591.5:c.-37+2408_-37+2412delinsATTTG | ENSP00000430760.1:n.-37+2408_-37+2412deli... | |
| ENST00000522100.5:c.-24+8613_-24+8617delinsATTTG | ENSP00000428487.1:n.-24+8613_-24+8617deli... | |
| ENST00000522226.5:c.-37+9119_-37+9123delinsATTTG | ENSP00000428187.1:n.-37+9119_-37+9123deli... | |
| ENST00000522926.1:n.424-29_424-25delinsATTTG | ||
| ENST00000523338.5:c.-37+8613_-37+8617delinsATTTG | ENSP00000428243.1:n.-37+8613_-37+8617deli... | |
| ENST00000610535.4:c.-37+2408_-37+2412delinsATTTG | ENSP00000483944.1:n.-37+2408_-37+2412deli... | |
| ENST00000610874.4:c.-37+2408_-37+2412delinsATTTG | ENSP00000484665.1:n.-37+2408_-37+2412deli... | |
| NM_001252385.1:c.-37+2408_-37+2412delinsATTTG | NP_001239314.1:n.-37+2408_-37+2412delinsA... | |
| NM_001252386.1:c.-24+2408_-24+2412delinsATTTG | NP_001239315.1:n.-24+2408_-24+2412delinsA... | |
| NM_001252390.1:c.-37+9119_-37+9123delinsATTTG | NP_001239319.1:n.-37+9119_-37+9123delinsA... | |
| NM_001252391.1:c.-37+8613_-37+8617delinsATTTG | NP_001239320.1:n.-37+8613_-37+8617delinsA... | |
| NM_001252392.1:c.-37+8613_-37+8617delinsATTTG | NP_001239321.1:n.-37+8613_-37+8617delinsA... | |
| NM_001252393.1:c.-37+2408_-37+2412delinsATTTG | NP_001239322.1:n.-37+2408_-37+2412delinsA... | |
| NM_001258454.1:c.-33+2408_-33+2412delinsATTTG | NP_001245383.1:n.-33+2408_-33+2412delinsA... | |
| NM_006058.4:c.-37+2408_-37+2412delinsATTTG | NP_006049.3:n.-37+2408_-37+2412delinsATTT... | |
| XM_005268355.1:c.-37+2408_-37+2412delinsATTTG | XP_005268412.1:n.-37+2408_-37+2412delinsA... | |
| XM_006714751.1:c.-37+2408_-37+2412delinsATTTG | XP_006714814.1:n.-37+2408_-37+2412delinsA... | |
| XM_006714752.1:c.-37+2408_-37+2412delinsATTTG | XP_006714815.1:n.-37+2408_-37+2412delinsA... | |
| XM_011537538.1:c.-37+1852_-37+1856delinsATTTG | XP_011535840.1:n.-37+1852_-37+1856delinsA... | |
| NM_001364486.1:c.-24+2408_-24+2412delinsATTTG | NP_001351415.1:n.-24+2408_-24+2412delinsA... | |
| NM_001364487.1:c.-37+2408_-37+2412delinsATTTG | NP_001351416.1:n.-37+2408_-37+2412delinsA... | |
| XM_005268355.2:c.-37+2408_-37+2412delinsATTTG | XP_005268412.1:n.-37+2408_-37+2412delinsA... | |
| XM_006714752.3:c.-37+2408_-37+2412delinsATTTG | XP_006714815.1:n.-37+2408_-37+2412delinsA... | |
| XM_017008945.2:c.-37+2408_-37+2412delinsATTTG | XP_016864434.1:n.-37+2408_-37+2412delinsA... | |
| XM_017008946.2:c.-37+8613_-37+8617delinsATTTG | XP_016864435.1:n.-37+8613_-37+8617delinsA... | |
| XM_017008947.2:c.-37+1852_-37+1856delinsATTTG | XP_016864436.1:n.-37+1852_-37+1856delinsA... | |
| XM_017008948.2:c.-24+2408_-24+2412delinsATTTG | XP_016864437.1:n.-24+2408_-24+2412delinsA... | |
| XM_017008949.2:c.-37+2408_-37+2412delinsATTTG | XP_016864438.1:n.-37+2408_-37+2412delinsA... | |
| XM_017008950.2:c.-37+2408_-37+2412delinsATTTG | XP_016864439.1:n.-37+2408_-37+2412delinsA... | |
| NM_001252386.2:c.-24+2408_-24+2412delinsATTTG | NP_001239315.1:n.-24+2408_-24+2412delinsA... | |
| NM_001252390.2:c.-37+9119_-37+9123delinsATTTG | NP_001239319.1:n.-37+9119_-37+9123delinsA... | |
| NM_001252391.2:c.-37+8613_-37+8617delinsATTTG | NP_001239320.1:n.-37+8613_-37+8617delinsA... | |
| NM_001252392.2:c.-37+8613_-37+8617delinsATTTG | NP_001239321.1:n.-37+8613_-37+8617delinsA... | |
| NM_001252393.2:c.-37+2408_-37+2412delinsATTTG | NP_001239322.1:n.-37+2408_-37+2412delinsA... | |
| NM_001258454.2:c.-33+2408_-33+2412delinsATTTG | NP_001245383.1:n.-33+2408_-33+2412delinsA... | |
| NM_001364486.2:c.-24+2408_-24+2412delinsATTTG | NP_001351415.1:n.-24+2408_-24+2412delinsA... | |
| NM_001364487.2:c.-37+2408_-37+2412delinsATTTG | NP_001351416.1:n.-37+2408_-37+2412delinsA... | |
| NM_006058.5:c.-37+2408_-37+2412delinsATTTG MANE Select | NP_006049.3:n.-37+2408_-37+2412delinsATTT... | |
| NM_001252385.2:c.-37+2408_-37+2412delinsATTTG | NP_001239314.1:n.-37+2408_-37+2412delinsA... |