Linked Data
dbSNP Id:
rs796051998
ExAC:
1:45973988 TTAC / T
gnomAD v2:
1-45973988-TTAC-T
gnomAD v3:
1-45508316-TTAC-T
gnomAD v4:
1-45508316-TTAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508323_45508325del , CM000663.2:g.45508323_45508325del | GRCh38 |
| NC_000001.10:g.45973995_45973997del , CM000663.1:g.45973995_45973997del | GRCh37 |
| NC_000001.9:g.45746582_45746584del | NCBI36 |
| NG_013378.1:g.13140_13142del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401061.9:c.388_390del MANE Select | ENSP00000383840.4:p.Tyr130del | |
| ENST00000401061.8:c.388_390del | ENSP00000383840.4:p.Tyr130del | |
| ENST00000616135.1:c.217_219del | ENSP00000478859.1:p.Tyr73del | |
| NM_015506.2:c.388_390del | NP_056321.2:p.Tyr130del | |
| XM_005270724.3:c.193_195del | XP_005270781.1:p.Tyr65del | |
| XM_011541204.1:c.217_219del | XP_011539506.1:p.Tyr73del | |
| NM_001330540.1:c.217_219del | NP_001317469.1:p.Tyr73del | |
| XM_005270724.5:c.193_195del | XP_005270781.1:p.Tyr65del | |
| NM_015506.3:c.388_390del MANE Select | NP_056321.2:p.Tyr130del | |
| NM_001330540.2:c.217_219del | NP_001317469.1:p.Tyr73del |