Linked Data
dbSNP Id:
rs1556673723
gnomAD v2:
X-115303853-GAT-G
gnomAD v4:
X-116172600-GAT-G
MyVariant Identifiers:
chrX:g.115303854_115303855del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172603_116172604del , CM000685.2:g.116172603_116172604del | GRCh38 |
| NC_000023.10:g.115303856_115303857del , CM000685.1:g.115303856_115303857del | GRCh37 |
| NC_000023.9:g.115217884_115217885del | NCBI36 |
| NG_016326.1:g.6899_6900del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.323_324del MANE Select | ENSP00000360973.4:p.Tyr108Ter | |
| ENST00000680409.1:n.791_792del | ||
| ENST00000681852.1:c.323_324del | ENSP00000505750.1:p.Tyr108Ter | |
| ENST00000371906.4:c.323_324del | ENSP00000360973.4:p.Tyr108Ter | |
| NM_000686.4:c.323_324del | NP_000677.2:p.Tyr108Ter | |
| XM_011537533.1:c.323_324del | XP_011535835.1:p.Tyr108Ter | |
| NM_000686.5:c.323_324del MANE Select | NP_000677.2:p.Tyr108Ter | |
| NM_001385624.1:c.323_324del | NP_001372553.1:p.Tyr108Ter |