Linked Data
dbSNP Id:
rs1316677867
gnomAD v2:
17-70118817-CT-C
gnomAD v3:
17-72122676-CT-C
gnomAD v4:
17-72122676-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122677del , CM000679.2:g.72122677del | GRCh38 |
| NC_000017.10:g.70118818del , CM000679.1:g.70118818del | GRCh37 |
| NC_000017.9:g.67630413del | NCBI36 |
| NG_012490.1:g.6658del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.432-42del MANE Select | ENSP00000245479.2:n.432-42del | |
| ENST00000245479.2:c.432-42del | ENSP00000245479.2:n.432-42del | |
| NM_000346.3:c.432-42del | NP_000337.1:n.432-42del | |
| NM_000346.4:c.432-42del MANE Select | NP_000337.1:n.432-42del |