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.
Linked Data
ClinVar Variation Id:
94296
dbSNP Id:
rs398123777
ExAC:
2:71797005 AACCAG / A
gnomAD v2:
2-71797005-AACCAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71569879_71569883del , CM000664.2:g.71569879_71569883del | GRCh38 |
| NC_000002.11:g.71797009_71797013del , CM000664.1:g.71797009_71797013del | GRCh37 |
| NC_000002.10:g.71650517_71650521del | NCBI36 |
| NG_008694.1:g.121257_121261del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.296_300del | ENSP00000513536.1:p.Gln99ProfsTer12 | |
| ENST00000258104.8:c.2870_2874del MANE Plus Clinical | ENSP00000258104.3:p.Gln957ProfsTer12 | |
| ENST00000410020.8:c.2924_2928del MANE Select | ENSP00000386881.3:p.Gln975ProfsTer12 | |
| ENST00000258104.7:c.2870_2874del | ENSP00000258104.3:p.Gln957ProfsTer12 | |
| ENST00000394120.6:c.2873_2877del | ENSP00000377678.2:p.Gln958ProfsTer12 | |
| ENST00000409366.5:c.2873_2877del | ENSP00000386512.1:p.Gln958ProfsTer12 | |
| ENST00000409582.7:c.2921_2925del | ENSP00000386547.3:p.Gln974ProfsTer12 | |
| ENST00000409651.5:c.2966_2970del | ENSP00000386683.1:p.Gln989ProfsTer12 | |
| ENST00000409744.5:c.2831_2835del | ENSP00000386285.1:p.Gln944ProfsTer12 | |
| ENST00000409762.5:c.2921_2925del | ENSP00000387137.1:p.Gln974ProfsTer12 | |
| ENST00000410020.7:c.2924_2928del | ENSP00000386881.3:p.Gln975ProfsTer12 | |
| ENST00000410041.1:c.2924_2928del | ENSP00000386617.1:p.Gln975ProfsTer12 | |
| ENST00000413539.6:c.2963_2967del | ENSP00000407046.2:p.Gln988ProfsTer12 | |
| ENST00000429174.6:c.2870_2874del | ENSP00000398305.2:p.Gln957ProfsTer12 | |
| NM_001130455.1:c.2873_2877del | NP_001123927.1:p.Gln958ProfsTer12 | |
| NM_001130976.1:c.2828_2832del | NP_001124448.1:p.Gln943ProfsTer12 | |
| NM_001130977.1:c.2828_2832del | NP_001124449.1:p.Gln943ProfsTer12 | |
| NM_001130978.1:c.2870_2874del | NP_001124450.1:p.Gln957ProfsTer12 | |
| NM_001130979.1:c.2963_2967del | NP_001124451.1:p.Gln988ProfsTer12 | |
| NM_001130980.1:c.2921_2925del | NP_001124452.1:p.Gln974ProfsTer12 | |
| NM_001130981.1:c.2921_2925del | NP_001124453.1:p.Gln974ProfsTer12 | |
| NM_001130982.1:c.2966_2970del | NP_001124454.1:p.Gln989ProfsTer12 | |
| NM_001130983.1:c.2873_2877del | NP_001124455.1:p.Gln958ProfsTer12 | |
| NM_001130984.1:c.2831_2835del | NP_001124456.1:p.Gln944ProfsTer12 | |
| NM_001130985.1:c.2924_2928del | NP_001124457.1:p.Gln975ProfsTer12 | |
| NM_001130986.1:c.2831_2835del | NP_001124458.1:p.Gln944ProfsTer12 | |
| NM_001130987.1:c.2924_2928del | NP_001124459.1:p.Gln975ProfsTer12 | |
| NM_003494.3:c.2870_2874del | NP_003485.1:p.Gln957ProfsTer12 | |
| XM_005264584.3:c.2966_2970del | XP_005264641.1:p.Gln989ProfsTer12 | |
| XM_005264585.3:c.2963_2967del | XP_005264642.1:p.Gln988ProfsTer12 | |
| XM_005264584.4:c.2966_2970del | XP_005264641.1:p.Gln989ProfsTer12 | |
| XM_005264585.5:c.2963_2967del | XP_005264642.1:p.Gln988ProfsTer12 | |
| XR_001738969.1:n.3124_3128del | ||
| NM_001130987.2:c.2924_2928del MANE Select | NP_001124459.1:p.Gln975ProfsTer12 | |
| NM_001130455.2:c.2873_2877del | NP_001123927.1:p.Gln958ProfsTer12 | |
| NM_001130976.2:c.2828_2832del | NP_001124448.1:p.Gln943ProfsTer12 | |
| NM_001130977.2:c.2828_2832del | NP_001124449.1:p.Gln943ProfsTer12 | |
| NM_001130978.2:c.2870_2874del | NP_001124450.1:p.Gln957ProfsTer12 | |
| NM_001130979.2:c.2963_2967del | NP_001124451.1:p.Gln988ProfsTer12 | |
| NM_001130980.2:c.2921_2925del | NP_001124452.1:p.Gln974ProfsTer12 | |
| NM_001130981.2:c.2921_2925del | NP_001124453.1:p.Gln974ProfsTer12 | |
| NM_001130982.2:c.2966_2970del | NP_001124454.1:p.Gln989ProfsTer12 | |
| NM_001130983.2:c.2873_2877del | NP_001124455.1:p.Gln958ProfsTer12 | |
| NM_001130984.2:c.2831_2835del | NP_001124456.1:p.Gln944ProfsTer12 | |
| NM_001130985.2:c.2924_2928del | NP_001124457.1:p.Gln975ProfsTer12 | |
| NM_001130986.2:c.2831_2835del | NP_001124458.1:p.Gln944ProfsTer12 | |
| NM_003494.4:c.2870_2874del MANE Plus Clinical | NP_003485.1:p.Gln957ProfsTer12 |