Linked Data
dbSNP Id:
rs757885232
ExAC:
19:15651424 AT / A
gnomAD v2:
19-15651424-AT-A
gnomAD v4:
19-15540613-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540614del , CM000681.2:g.15540614del | GRCh38 |
| NC_000019.9:g.15651425del , CM000681.1:g.15651425del | GRCh37 |
| NC_000019.8:g.15512425del | NCBI36 |
| NG_007987.1:g.37090del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.836del MANE Select | ENSP00000269703.1:p.Ile279ThrfsTer? | |
| ENST00000269703.7:c.836del | ENSP00000269703.1:p.Ile279ThrfsTer? | |
| ENST00000601005.2:c.836del | ENSP00000469866.1:p.Ile279ThrfsTer? | |
| NM_173483.3:c.836del | NP_775754.2:p.Ile279ThrfsTer? | |
| XM_011527692.1:c.836del | XP_011525994.1:p.Ile279ThrfsTer? | |
| XM_011527693.1:c.836del | XP_011525995.1:p.Ile279ThrfsTer? | |
| XM_011527692.2:c.836del | XP_011525994.1:p.Ile279ThrfsTer? | |
| XM_011527693.2:c.836del | XP_011525995.1:p.Ile279ThrfsTer? | |
| NM_173483.4:c.836del MANE Select | NP_775754.2:p.Ile279ThrfsTer? |