Linked Data
dbSNP Id:
rs776853370
ExAC:
X:38229009 TAA / T
gnomAD v2:
X-38229009-TAA-T
gnomAD v4:
X-38369756-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369757_38369758del , CM000685.2:g.38369757_38369758del | GRCh38 |
| NC_000023.10:g.38229010_38229011del , CM000685.1:g.38229010_38229011del | GRCh37 |
| NC_000023.9:g.38113954_38113955del | NCBI36 |
| NG_008471.1:g.22275_22276del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.217-39_217-38del MANE Select | ENSP00000039007.4:n.217-39_217-38del | |
| ENST00000643344.1:c.217-39_217-38del | ENSP00000496606.1:n.217-39_217-38del | |
| ENST00000039007.4:c.217-39_217-38del | ENSP00000039007.4:n.217-39_217-38del | |
| ENST00000465127.1:c.172-296364_172-296363del | ENSP00000417050.1:n.172-296364_172-296363del | |
| ENST00000488812.1:n.309-39_309-38del | ||
| NM_000531.5:c.217-39_217-38del | NP_000522.3:n.217-39_217-38del | |
| XM_017029556.1:c.217-39_217-38del | XP_016885045.1:n.217-39_217-38del | |
| NM_000531.6:c.217-39_217-38del MANE Select | NP_000522.3:n.217-39_217-38del |