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_000012.12:g.32582172_32582187delinsGTGAGGAGGAGAAAGC , CM000674.2:g.32582172_32582187delinsGTGAGGAGGAGAAAGC | GRCh38 |
| NC_000012.11:g.32735106_32735121delinsGTGAGGAGGAGAAAGC , CM000674.1:g.32735106_32735121delinsGTGAGGAGGAGAAAGC | GRCh37 |
| NC_000012.10:g.32626373_32626388delinsGTGAGGAGGAGAAAGC | NCBI36 |
| NG_008626.2:g.187644_187659delinsGTGAGGAGGAGAAAGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427716.7:c.305_320delinsGTGAGGAGGAGAAAGC | ENSP00000394487.2:p.Cys102= | |
| ENST00000531134.7:c.560_575delinsGTGAGGAGGAGAAAGC | ENSP00000431323.1:p.Cys187= | |
| ENST00000583694.2:c.305_320delinsGTGAGGAGGAGAAAGC | ENSP00000462623.2:p.Cys102= | |
| ENST00000682739.1:c.26_41delinsGTGAGGAGGAGAAAGC | ENSP00000507616.1:p.Cys9= | |
| ENST00000683182.1:c.-449-16325_-449-16310delinsGTGAGGAGGAGAAAGC | ENSP00000507831.1:n.-449-16325_-449-16310... | |
| ENST00000525053.6:c.305_320delinsGTGAGGAGGAGAAAGC | ENSP00000433666.2:p.Cys102= | |
| ENST00000531134.6:c.560_575delinsGTGAGGAGGAGAAAGC | ENSP00000431323.1:p.Cys187= | |
| ENST00000534526.7:c.716_731delinsGTGAGGAGGAGAAAGC MANE Select | ENSP00000449273.1:p.Cys239= | |
| ENST00000395740.5:c.305_320delinsGTGAGGAGGAGAAAGC | ENSP00000379089.1:p.Cys102= | |
| ENST00000427716.6:c.305_320delinsGTGAGGAGGAGAAAGC | ENSP00000394487.2:p.Cys102= | |
| ENST00000472289.5:c.305_320delinsGTGAGGAGGAGAAAGC | ENSP00000434356.1:p.Cys102= | |
| ENST00000493087.5:c.305_320delinsGTGAGGAGGAGAAAGC | ENSP00000437109.1:p.Cys102= | |
| ENST00000494275.5:n.656_671delinsGTGAGGAGGAGAAAGC | ||
| ENST00000525053.5:c.641_656delinsGTGAGGAGGAGAAAGC | ENSP00000433666.1:p.Cys214= | |
| ENST00000531134.5:c.560_575delinsGTGAGGAGGAGAAAGC | ENSP00000431323.1:p.Cys187= | |
| ENST00000534526.6:c.716_731delinsGTGAGGAGGAGAAAGC | ENSP00000449273.1:p.Cys239= | |
| ENST00000546442.5:c.26_41delinsGTGAGGAGGAGAAAGC | ENSP00000446695.1:p.Cys9= | |
| ENST00000550091.5:n.470_485delinsGTGAGGAGGAGAAAGC | ||
| ENST00000551984.5:c.92+5723_92+5738delinsGTGAGGAGGAGAAAGC | ENSP00000449614.1:n.92+5723_92+5738delins... | |
| NM_001304480.1:c.641_656delinsGTGAGGAGGAGAAAGC | NP_001291409.1:p.Cys214= | |
| NM_001304481.1:c.560_575delinsGTGAGGAGGAGAAAGC | NP_001291410.1:p.Cys187= | |
| NM_001304483.1:c.-540_-525delinsGTGAGGAGGAGAAAGC | NP_001291412.1:n.-540_-525delinsGTGAGGAGG... | |
| NM_001304484.1:c.-847_-832delinsGTGAGGAGGAGAAAGC | NP_001291413.1:n.-847_-832delinsGTGAGGAGG... | |
| NM_139241.3:c.305_320delinsGTGAGGAGGAGAAAGC | NP_640334.2:p.Cys102= | |
| XM_005253304.3:c.797_812delinsGTGAGGAGGAGAAAGC | XP_005253361.1:p.Cys266= | |
| XM_005253307.2:c.26_41delinsGTGAGGAGGAGAAAGC | XP_005253364.1:p.Cys9= | |
| XM_005253308.3:c.26_41delinsGTGAGGAGGAGAAAGC | XP_005253365.1:p.Cys9= | |
| XM_005253309.1:c.26_41delinsGTGAGGAGGAGAAAGC | XP_005253366.1:p.Cys9= | |
| XM_011520554.1:c.599_614delinsGTGAGGAGGAGAAAGC | XP_011518856.1:p.Cys200= | |
| XM_011520555.1:c.305_320delinsGTGAGGAGGAGAAAGC | XP_011518857.1:p.Cys102= | |
| XM_011520556.1:c.305_320delinsGTGAGGAGGAGAAAGC | XP_011518858.1:p.Cys102= | |
| XM_011520557.1:c.49-16325_49-16310delinsGTGAGGAGGAGAAAGC | XP_011518859.1:n.49-16325_49-16310delinsG... | |
| NM_001330373.1:c.26_41delinsGTGAGGAGGAGAAAGC | NP_001317302.1:p.Cys9= | |
| NM_001330374.1:c.26_41delinsGTGAGGAGGAGAAAGC | NP_001317303.1:p.Cys9= | |
| XM_005253304.4:c.797_812delinsGTGAGGAGGAGAAAGC | XP_005253361.1:p.Cys266= | |
| XM_005253308.5:c.26_41delinsGTGAGGAGGAGAAAGC | XP_005253365.1:p.Cys9= | |
| XM_005253310.4:c.-540_-525delinsGTGAGGAGGAGAAAGC | XP_005253367.1:n.-540_-525delinsGTGAGGAGG... | |
| XM_017018803.1:c.797_812delinsGTGAGGAGGAGAAAGC | XP_016874292.1:p.Cys266= | |
| XM_017018805.1:c.49-16325_49-16310delinsGTGAGGAGGAGAAAGC | XP_016874294.1:n.49-16325_49-16310delinsG... | |
| XM_024448837.1:c.26_41delinsGTGAGGAGGAGAAAGC | XP_024304605.1:p.Cys9= | |
| XM_024448838.1:c.26_41delinsGTGAGGAGGAGAAAGC | XP_024304606.1:p.Cys9= | |
| XM_024448839.1:c.26_41delinsGTGAGGAGGAGAAAGC | XP_024304607.1:p.Cys9= | |
| XM_024448840.1:c.-202-16325_-202-16310delinsGTGAGGAGGAGAAAGC | XP_024304608.1:n.-202-16325_-202-16310del... | |
| XR_001748576.1:n.987_1002delinsGTGAGGAGGAGAAAGC | ||
| NM_001370297.1:c.49-16325_49-16310delinsGTGAGGAGGAGAAAGC | NP_001357226.1:n.49-16325_49-16310delinsG... | |
| NM_001370298.1:c.797_812delinsGTGAGGAGGAGAAAGC | NP_001357227.1:p.Cys266= | |
| NM_001304483.2:c.-540_-525delinsGTGAGGAGGAGAAAGC | NP_001291412.1:n.-540_-525delinsGTGAGGAGG... | |
| NM_001304484.2:c.-847_-832delinsGTGAGGAGGAGAAAGC | NP_001291413.1:n.-847_-832delinsGTGAGGAGG... | |
| NM_001330373.2:c.26_41delinsGTGAGGAGGAGAAAGC | NP_001317302.1:p.Cys9= | |
| NM_001330374.2:c.26_41delinsGTGAGGAGGAGAAAGC | NP_001317303.1:p.Cys9= | |
| NM_001370298.3:c.716_731delinsGTGAGGAGGAGAAAGC MANE Select | NP_001357227.2:p.Cys239= | |
| NM_001384126.1:c.716_731delinsGTGAGGAGGAGAAAGC | NP_001371055.1:p.Cys239= | |
| NM_001384127.1:c.305_320delinsGTGAGGAGGAGAAAGC | NP_001371056.1:p.Cys102= | |
| NM_001384128.1:c.305_320delinsGTGAGGAGGAGAAAGC | NP_001371057.1:p.Cys102= | |
| NM_001384130.1:c.26_41delinsGTGAGGAGGAGAAAGC | NP_001371059.1:p.Cys9= | |
| NM_001384131.1:c.305_320delinsGTGAGGAGGAGAAAGC | NP_001371060.1:p.Cys102= | |
| NM_001384132.1:c.305_320delinsGTGAGGAGGAGAAAGC | NP_001371061.1:p.Cys102= | |
| NM_001385118.1:c.305_320delinsGTGAGGAGGAGAAAGC | NP_001372047.1:p.Cys102= | |
| NR_168884.1:n.542_557delinsGTGAGGAGGAGAAAGC |