Linked Data
dbSNP Id:
rs781954939
gnomAD v3:
X-48523729-TA-T
gnomAD v4:
X-48523729-TA-T
MyVariant Identifiers:
chrX:g.48523730del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48523731del , CM000685.2:g.48523731del | GRCh38 |
| NC_000023.10:g.48382119del , CM000685.1:g.48382119del | GRCh37 |
| NC_000023.9:g.48267063del | NCBI36 |
| NG_007452.1:g.6956del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.-41del MANE Select | ENSP00000417052.1:n.-41del | |
| ENST00000651615.1:c.-41del | ENSP00000498524.1:n.-41del | |
| ENST00000276096.10:n.110-192del | ||
| ENST00000414061.1:c.-41del | ENSP00000405832.1:n.-41del | |
| ENST00000446158.5:c.-41del | ENSP00000390031.1:n.-41del | |
| ENST00000495186.5:c.-41del | ENSP00000417052.1:n.-41del | |
| ENST00000498425.1:n.104-23del | ||
| NM_006579.2:c.-41del | NP_006570.1:n.-41del | |
| NM_006579.3:c.-41del MANE Select | NP_006570.1:n.-41del |