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_000011.10:g.17395967_17395968del , CM000673.2:g.17395967_17395968del | GRCh38 |
| NC_000011.9:g.17417514_17417515del , CM000673.1:g.17417514_17417515del | GRCh37 |
| NC_000011.8:g.17374090_17374091del | NCBI36 |
| NG_008867.1:g.85935_85936del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3721-38_3721-37del | ||
| ENST00000528374.2:c.711-38_711-37del | ||
| ENST00000529967.6:n.2459-38_2459-37del | ||
| ENST00000532220.2:n.3315_3316del | ||
| ENST00000642611.2:n.5282_5283del | ||
| ENST00000644057.2:n.563-38_563-37del | ||
| ENST00000645004.2:n.1619-38_1619-37del | ||
| ENST00000682051.1:n.4282-38_4282-37del | ||
| ENST00000682110.1:n.4335-38_4335-37del | ||
| ENST00000682140.1:c.3986-38_3986-37del | ENSP00000507829.1:n.3986-38_3986-37del | |
| ENST00000682185.1:n.5425-38_5425-37del | ||
| ENST00000682204.1:c.*2258-38_*2258-37del | ENSP00000507094.1:n.*2258-38_*2258-37del | |
| ENST00000682215.1:n.4702-38_4702-37del | ||
| ENST00000682288.1:c.*2551-38_*2551-37del | ENSP00000507506.1:n.*2551-38_*2551-37del | |
| ENST00000682442.1:n.4555-38_4555-37del | ||
| ENST00000682528.1:n.4412-38_4412-37del | ||
| ENST00000682673.1:n.4279-38_4279-37del | ||
| ENST00000682805.1:n.4740-38_4740-37del | ||
| ENST00000682965.1:c.*542-38_*542-37del | ENSP00000508229.1:n.*542-38_*542-37del | |
| ENST00000683093.1:n.5381_5382del | ||
| ENST00000683136.1:c.4003-38_4003-37del | ENSP00000507768.1:n.4003-38_4003-37del | |
| ENST00000683153.1:n.4377-38_4377-37del | ||
| ENST00000683365.1:n.4437-38_4437-37del | ||
| ENST00000683377.1:n.4335-38_4335-37del | ||
| ENST00000683456.1:c.*1257-38_*1257-37del | ENSP00000508318.1:n.*1257-38_*1257-37del | |
| ENST00000683522.1:n.4335-38_4335-37del | ||
| ENST00000683562.1:c.*2289-38_*2289-37del | ENSP00000508265.1:n.*2289-38_*2289-37del | |
| ENST00000683693.1:n.5729_5730del | ||
| ENST00000683725.1:c.4120-38_4120-37del | ENSP00000507496.1:n.4120-38_4120-37del | |
| ENST00000684010.1:n.4330-38_4330-37del | ||
| ENST00000684157.1:n.5282_5283del | ||
| ENST00000684253.1:n.4238-38_4238-37del | ||
| ENST00000684288.1:c.*2292-38_*2292-37del | ENSP00000507143.1:n.*2292-38_*2292-37del | |
| ENST00000684313.1:n.3767-38_3767-37del | ||
| ENST00000684332.1:n.4408-38_4408-37del | ||
| ENST00000684371.1:n.4441-38_4441-37del | ||
| ENST00000684404.1:n.5325_5326del | ||
| ENST00000684442.1:n.4559-38_4559-37del | ||
| ENST00000684555.1:c.*2332-38_*2332-37del | ENSP00000507705.1:n.*2332-38_*2332-37del | |
| ENST00000684571.1:c.3961-38_3961-37del | ENSP00000506935.1:n.3961-38_3961-37del | |
| ENST00000684593.1:c.*3825-38_*3825-37del | ENSP00000507005.1:n.*3825-38_*3825-37del | |
| ENST00000684711.1:c.*2516-38_*2516-37del | ENSP00000506841.1:n.*2516-38_*2516-37del | |
| ENST00000302539.9:c.4123-38_4123-37del | ENSP00000303960.4:n.4123-38_4123-37del | |
| ENST00000389817.8:c.4120-38_4120-37del MANE Select | ENSP00000374467.4:n.4120-38_4120-37del | |
| ENST00000642271.1:c.4117-38_4117-37del | ENSP00000493749.1:n.4117-38_4117-37del | |
| ENST00000642579.1:c.2174-38_2174-37del | ||
| ENST00000642611.1:n.5167_5168del | ||
| ENST00000642902.1:c.3902-38_3902-37del | ||
| ENST00000643260.1:c.4120-38_4120-37del | ENSP00000494450.1:n.4120-38_4120-37del | |
| ENST00000643562.1:c.*2242-38_*2242-37del | ENSP00000496124.1:n.*2242-38_*2242-37del | |
| ENST00000643925.1:c.2760-38_2760-37del | ||
| ENST00000644057.1:n.197-38_197-37del | ||
| ENST00000644484.1:c.*3468_*3469del | ENSP00000493558.1:n.*3468_*3469del | |
| ENST00000644675.1:c.*2292-38_*2292-37del | ENSP00000494567.1:n.*2292-38_*2292-37del | |
| ENST00000644757.1:c.*3202+296_*3202+297del | ENSP00000495085.1:n.*3202+296_*3202+297de... | |
| ENST00000644772.1:c.4186-38_4186-37del | ENSP00000494321.1:n.4186-38_4186-37del | |
| ENST00000645004.1:n.1813-38_1813-37del | ||
| ENST00000645076.1:c.3319-38_3319-37del | ||
| ENST00000645417.1:c.1308-38_1308-37del | ||
| ENST00000645744.1:c.*3847_*3848del | ENSP00000494564.1:n.*3847_*3848del | |
| ENST00000645760.1:c.4541-38_4541-37del | ||
| ENST00000645884.1:c.*1403-38_*1403-37del | ENSP00000495516.1:n.*1403-38_*1403-37del | |
| ENST00000646003.1:c.*2222-38_*2222-37del | ENSP00000495259.1:n.*2222-38_*2222-37del | |
| ENST00000646207.1:c.*2957-38_*2957-37del | ENSP00000495025.1:n.*2957-38_*2957-37del | |
| ENST00000646276.1:c.*3486_*3487del | ENSP00000496070.1:n.*3486_*3487del | |
| ENST00000646592.1:c.3426-38_3426-37del | ||
| ENST00000646902.1:c.4087-38_4087-37del | ENSP00000494101.1:n.4087-38_4087-37del | |
| ENST00000646993.1:c.*2662-38_*2662-37del | ENSP00000493720.1:n.*2662-38_*2662-37del | |
| ENST00000647013.1:c.4126-38_4126-37del | ENSP00000496741.1:n.4126-38_4126-37del | |
| ENST00000647015.1:c.3871-38_3871-37del | ENSP00000495389.1:n.3871-38_3871-37del | |
| ENST00000647086.1:c.*3706-38_*3706-37del | ENSP00000493677.1:n.*3706-38_*3706-37del | |
| ENST00000647158.1:c.*2407-38_*2407-37del | ENSP00000495744.1:n.*2407-38_*2407-37del | |
| ENST00000302539.8:c.4123-38_4123-37del | ENSP00000303960.4:n.4123-38_4123-37del | |
| ENST00000389817.7:c.4120-38_4120-37del | ENSP00000374467.3:n.4120-38_4120-37del | |
| ENST00000528374.1:c.602-38_602-37del | ||
| ENST00000532220.1:n.594-38_594-37del | ||
| NM_000352.4:c.4120-38_4120-37del | NP_000343.2:n.4120-38_4120-37del | |
| NM_001287174.1:c.4123-38_4123-37del | NP_001274103.1:n.4123-38_4123-37del | |
| XM_011520331.1:c.4120-38_4120-37del | XP_011518633.1:n.4120-38_4120-37del | |
| XM_011520332.1:c.4123-38_4123-37del | XP_011518634.1:n.4123-38_4123-37del | |
| XM_011520333.1:c.2620-38_2620-37del | XP_011518635.1:n.2620-38_2620-37del | |
| XR_930890.1:n.4186-38_4186-37del | ||
| NM_001351295.1:c.4186-38_4186-37del | NP_001338224.1:n.4186-38_4186-37del | |
| NM_001351296.1:c.4120-38_4120-37del | NP_001338225.1:n.4120-38_4120-37del | |
| NM_001351297.1:c.4117-38_4117-37del | NP_001338226.1:n.4117-38_4117-37del | |
| NR_147094.1:n.4415-38_4415-37del | ||
| XM_017018197.2:c.4189-38_4189-37del | XP_016873686.1:n.4189-38_4189-37del | |
| XM_017018199.1:c.4186-38_4186-37del | XP_016873688.1:n.4186-38_4186-37del | |
| XM_017018201.2:c.4189-38_4189-37del | XP_016873690.1:n.4189-38_4189-37del | |
| XM_017018202.1:c.2686-38_2686-37del | XP_016873691.1:n.2686-38_2686-37del | |
| XM_017018204.1:c.2077-38_2077-37del | XP_016873693.1:n.2077-38_2077-37del | |
| XM_024448668.1:c.2488-38_2488-37del | XP_024304436.1:n.2488-38_2488-37del | |
| XR_001747945.2:n.4261-38_4261-37del | ||
| XR_001747946.2:n.4192-38_4192-37del | ||
| XR_002957189.1:n.5804_5805del | ||
| NM_000352.6:c.4120-38_4120-37del MANE Select | NP_000343.2:n.4120-38_4120-37del | |
| NM_001287174.2:c.4123-38_4123-37del | NP_001274103.1:n.4123-38_4123-37del | |
| NM_001351295.2:c.4186-38_4186-37del | NP_001338224.1:n.4186-38_4186-37del | |
| NM_001351296.2:c.4120-38_4120-37del | NP_001338225.1:n.4120-38_4120-37del | |
| NM_001351297.2:c.4117-38_4117-37del | NP_001338226.1:n.4117-38_4117-37del | |
| NR_147094.2:n.4415-38_4415-37del | ||
| NM_001287174.3:c.4123-38_4123-37del | NP_001274103.1:n.4123-38_4123-37del |