Linked Data
dbSNP Id:
rs767073122
ExAC:
11:2186516 TACG / T
gnomAD v2:
11-2186516-TACG-T
gnomAD v4:
11-2165286-TACG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2165287_2165289del , CM000673.2:g.2165287_2165289del | GRCh38 |
| NC_000011.9:g.2186517_2186519del , CM000673.1:g.2186517_2186519del | GRCh37 |
| NC_000011.8:g.2143093_2143095del | NCBI36 |
| NG_007114.1:g.906_908del | |
| NG_008128.1:g.11517_11519del | |
| NG_050578.1:g.921_923del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1277_1279del MANE Select | ENSP00000325951.4:p.Thr426_Tyr427delinsAsn | |
| ENST00000333684.9:c.995_997del | ENSP00000328814.6:p.Thr332_Tyr333delinsAsn | |
| ENST00000352909.7:c.1277_1279del | ENSP00000325951.3:p.Thr426_Tyr427delinsAsn | |
| ENST00000381175.5:c.1358_1360del | ENSP00000370567.1:p.Thr453_Tyr454delinsAsn | |
| ENST00000381178.5:c.1370_1372del | ENSP00000370571.1:p.Thr457_Tyr458delinsAsn | |
| NM_000360.3:c.1277_1279del | NP_000351.2:p.Thr426_Tyr427delinsAsn | |
| NM_199292.2:c.1370_1372del | NP_954986.2:p.Thr457_Tyr458delinsAsn | |
| NM_199293.2:c.1358_1360del | NP_954987.2:p.Thr453_Tyr454delinsAsn | |
| XM_011520335.1:c.1289_1291del | XP_011518637.1:p.Thr430_Tyr431delinsAsn | |
| XM_011520335.2:c.1289_1291del | XP_011518637.1:p.Thr430_Tyr431delinsAsn | |
| NM_000360.4:c.1277_1279del MANE Select | NP_000351.2:p.Thr426_Tyr427delinsAsn | |
| NM_199292.3:c.1370_1372del | NP_954986.2:p.Thr457_Tyr458delinsAsn | |
| NM_199293.3:c.1358_1360del | NP_954987.2:p.Thr453_Tyr454delinsAsn |