Linked Data
dbSNP Id:
rs1173024484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40644655del , CM000675.2:g.40644655del | GRCh38 |
| NC_000013.10:g.41218792del , CM000675.1:g.41218792del | GRCh37 |
| NC_000013.9:g.40116792del | NCBI36 |
| NG_023244.1:g.26944del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379561.6:c.630+20929del MANE Select | ENSP00000368880.4:n.630+20929del | |
| ENST00000655267.1:n.333+20929del | ||
| ENST00000660760.1:n.296-11406del | ||
| ENST00000379561.5:c.630+20929del | ENSP00000368880.4:n.630+20929del | |
| NM_002015.3:c.630+20929del | NP_002006.2:n.630+20929del | |
| XR_941536.1:n.1226+685del | ||
| NM_002015.4:c.630+20929del MANE Select | NP_002006.2:n.630+20929del |