Linked Data
dbSNP Id:
rs1321981494
gnomAD v3:
X-155022523-AAAG-A
gnomAD v4:
X-155022523-AAAG-A
MyVariant Identifiers:
chrX:g.155022524_155022526del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155022527_155022529del , CM000685.2:g.155022527_155022529del | GRCh38 |
| NC_000023.10:g.154250802_154250804del , CM000685.1:g.154250802_154250804del | GRCh37 |
| NC_000023.9:g.153903996_153903998del | NCBI36 |
| NG_011403.1:g.5198_5200del | |
| NG_011403.2:g.5198_5200del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.27_29del MANE Select | ENSP00000353393.4:p.Phe10del | |
| ENST00000647125.1:c.27_29del | ENSP00000496062.1:p.Phe10del | |
| ENST00000360256.8:c.27_29del | ENSP00000353393.4:p.Phe10del | |
| ENST00000423959.5:c.38+4254_38+4256del | ENSP00000409446.1:n.38+4254_38+4256del | |
| ENST00000453950.1:c.39-30_39-28del | ENSP00000389153.1:n.39-30_39-28del | |
| NM_000132.3:c.27_29del | NP_000123.1:p.Phe10del | |
| XM_011531126.1:c.38+4254_38+4256del | XP_011529428.1:n.38+4254_38+4256del | |
| NM_000132.4:c.27_29del MANE Select | NP_000123.1:p.Phe10del |