Linked Data
dbSNP Id:
rs781845273
gnomAD v3:
X-37795889-CATGTGTGT-C
gnomAD v4:
X-37795889-CATGTGTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37795890_37795897del , CM000685.2:g.37795890_37795897del | GRCh38 |
| NC_000023.10:g.37655143_37655150del , CM000685.1:g.37655143_37655150del | GRCh37 |
| NC_000023.9:g.37540083_37540090del | NCBI36 |
| NG_009065.1:g.20870_20877del , LRG_53:g.20870_20877del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.338-61_338-54del | ENSP00000512461.1:n.338-61_338-54del | |
| ENST00000696171.1:c.388-61_388-54del | ENSP00000512462.1:n.388-61_388-54del | |
| ENST00000696172.1:c.338-3065_338-3058del | ENSP00000512463.1:n.338-3065_338-3058del | |
| ENST00000378588.5:c.484-61_484-54del MANE Select | ENSP00000367851.4:n.484-61_484-54del | |
| ENST00000378588.4:c.484-61_484-54del | ENSP00000367851.4:n.484-61_484-54del | |
| ENST00000465127.1:c.171+369890_171+369897del | ENSP00000417050.1:n.171+369890_171+369897del | |
| NM_000397.3:c.484-61_484-54del , LRG_53t1:c.484-61_484-54del | NP_000388.2:n.484-61_484-54del | |
| XM_011543890.1:c.178-61_178-54del | XP_011542192.1:n.178-61_178-54del | |
| NM_000397.4:c.484-61_484-54del MANE Select | NP_000388.2:n.484-61_484-54del |