Linked Data
dbSNP Id:
rs1172979477
gnomAD v2:
12-53701280-TG-T
gnomAD v3:
12-53307496-TG-T
gnomAD v4:
12-53307496-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307499del , CM000674.2:g.53307499del | GRCh38 |
| NC_000012.11:g.53701283del , CM000674.1:g.53701283del | GRCh37 |
| NC_000012.10:g.51987550del | NCBI36 |
| NG_016775.1:g.19132del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1633del MANE Select | ENSP00000209873.4:p.His545ThrfsTer6 | |
| ENST00000547757.2:c.*551del | ENSP00000448020.2:n.*551del | |
| ENST00000548931.6:c.1068del | ENSP00000457518.1:p.Thr357ProfsTer? | |
| ENST00000549450.6:n.1567del | ||
| ENST00000209873.8:c.1633del | ENSP00000209873.4:p.His545ThrfsTer6 | |
| ENST00000394384.7:c.1534del | ENSP00000377908.3:p.His512ThrfsTer6 | |
| ENST00000548931.5:c.1068del | ENSP00000457518.1:p.Thr357ProfsTer? | |
| ENST00000550286.5:c.1261del | ENSP00000446885.1:p.His421ThrfsTer6 | |
| ENST00000552876.5:n.1976del | ||
| NM_001173466.1:c.1534del | NP_001166937.1:p.His512ThrfsTer6 | |
| NM_015665.5:c.1633del | NP_056480.1:p.His545ThrfsTer6 | |
| XM_006719617.2:c.1648del | XP_006719680.1:p.His550ThrfsTer6 | |
| XM_011538777.1:c.1690del | XP_011537079.1:p.His564ThrfsTer6 | |
| XM_011538778.1:c.1675del | XP_011537080.1:p.His559ThrfsTer6 | |
| XM_011538779.1:c.1591del | XP_011537081.1:p.His531ThrfsTer6 | |
| XM_011538780.1:c.1576del | XP_011537082.1:p.His526ThrfsTer6 | |
| XM_011538781.1:c.1024del | XP_011537083.1:p.His342ThrfsTer6 | |
| XM_011538778.2:c.1675del | XP_011537080.1:p.His559ThrfsTer6 | |
| XM_011538780.2:c.1576del | XP_011537082.1:p.His526ThrfsTer6 | |
| XR_001748875.2:n.1690del | ||
| NM_015665.6:c.1633del MANE Select | NP_056480.1:p.His545ThrfsTer6 | |
| NM_001173466.2:c.1534del | NP_001166937.1:p.His512ThrfsTer6 |