Linked Data
dbSNP Id:
rs1220471344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40644285_40644287del , CM000675.2:g.40644285_40644287del | GRCh38 |
| NC_000013.10:g.41218422_41218424del , CM000675.1:g.41218422_41218424del | GRCh37 |
| NC_000013.9:g.40116422_40116424del | NCBI36 |
| NG_023244.1:g.27314_27316del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379561.6:c.630+21299_630+21301del MANE Select | ENSP00000368880.4:n.630+21299_630+21301del | |
| ENST00000655267.1:n.333+21299_333+21301del | ||
| ENST00000660760.1:n.296-11036_296-11034del | ||
| ENST00000379561.5:c.630+21299_630+21301del | ENSP00000368880.4:n.630+21299_630+21301del | |
| NM_002015.3:c.630+21299_630+21301del | NP_002006.2:n.630+21299_630+21301del | |
| XR_941536.1:n.1226+1055_1226+1057del | ||
| NM_002015.4:c.630+21299_630+21301del MANE Select | NP_002006.2:n.630+21299_630+21301del |