Linked Data
dbSNP Id:
rs762727683
ExAC:
15:72104064 TGGGA / T
gnomAD v2:
15-72104064-TGGGA-T
gnomAD v4:
15-71811724-TGGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811729_71811732del , CM000677.2:g.71811729_71811732del | GRCh38 |
| NC_000015.9:g.72104069_72104072del , CM000677.1:g.72104069_72104072del | GRCh37 |
| NC_000015.8:g.69891123_69891126del | NCBI36 |
| NG_009113.2:g.6175_6178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.246-37_246-34del MANE Select | ENSP00000482504.1:n.246-37_246-34del | |
| ENST00000617575.4:c.246-37_246-34del | ENSP00000482504.1:n.246-37_246-34del | |
| ENST00000621098.1:c.246-37_246-34del | ENSP00000479962.1:n.246-37_246-34del | |
| ENST00000621736.4:c.-19-37_-19-34del | ENSP00000479254.1:n.-19-37_-19-34del | |
| NM_014249.3:c.246-37_246-34del | NP_055064.1:n.246-37_246-34del | |
| NM_016346.3:c.246-37_246-34del | NP_057430.1:n.246-37_246-34del | |
| XM_011521146.1:c.-19-37_-19-34del | XP_011519448.1:n.-19-37_-19-34del | |
| NM_014249.4:c.246-37_246-34del MANE Select | NP_055064.1:n.246-37_246-34del | |
| NM_016346.4:c.246-37_246-34del | NP_057430.1:n.246-37_246-34del |