Linked Data
dbSNP Id:
rs772721972
ExAC:
17:6683789 AG / A
gnomAD v2:
17-6683789-AG-A
gnomAD v4:
17-6780470-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780472del , CM000679.2:g.6780472del | GRCh38 |
| NC_000017.10:g.6683791del , CM000679.1:g.6683791del | GRCh37 |
| NC_000017.9:g.6624515del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.604del MANE Select | ENSP00000321386.4:p.Asp202ThrfsTer28 | |
| ENST00000321535.4:c.604del | ENSP00000321386.4:p.Asp202ThrfsTer28 | |
| NM_153230.2:c.604del | NP_694962.1:p.Asp202ThrfsTer28 | |
| XM_011523697.1:c.604del | XP_011521999.1:p.Asp202ThrfsTer28 | |
| XR_243544.3:n.782del | ||
| NM_153230.3:c.604del MANE Select | NP_694962.1:p.Asp202ThrfsTer28 |