Linked Data
ClinVar Variation Id:
1284088
ClinVar RCV Id:
RCV001698824
dbSNP Id:
rs57325016
gnomAD v2:
X-37655143-ATGTGTG-A
gnomAD v3:
X-37795890-ATGTGTG-A
gnomAD v4:
X-37795890-ATGTGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37795932_37795937del , CM000685.2:g.37795932_37795937del | GRCh38 |
| NC_000023.10:g.37655185_37655190del , CM000685.1:g.37655185_37655190del | GRCh37 |
| NC_000023.9:g.37540125_37540130del | NCBI36 |
| NG_009065.1:g.20912_20917del , LRG_53:g.20912_20917del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.338-19_338-14del | ENSP00000512461.1:n.338-19_338-14del | |
| ENST00000696171.1:c.388-19_388-14del | ENSP00000512462.1:n.388-19_388-14del | |
| ENST00000696172.1:c.338-3023_338-3018del | ENSP00000512463.1:n.338-3023_338-3018del | |
| ENST00000378588.5:c.484-19_484-14del MANE Select | ENSP00000367851.4:n.484-19_484-14del | |
| ENST00000378588.4:c.484-19_484-14del | ENSP00000367851.4:n.484-19_484-14del | |
| ENST00000465127.1:c.171+369932_171+369937del | ENSP00000417050.1:n.171+369932_171+369937del | |
| NM_000397.3:c.484-19_484-14del , LRG_53t1:c.484-19_484-14del | NP_000388.2:n.484-19_484-14del | |
| XM_011543890.1:c.178-19_178-14del | XP_011542192.1:n.178-19_178-14del | |
| NM_000397.4:c.484-19_484-14del MANE Select | NP_000388.2:n.484-19_484-14del |