Linked Data
dbSNP Id:
rs1308129416
gnomAD v2:
X-25031551-GGGC-G
gnomAD v4:
X-25013434-GGGC-G
MyVariant Identifiers:
chrX:g.25031552_25031554del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013444_25013446del , CM000685.2:g.25013444_25013446del | GRCh38 |
| NC_000023.10:g.25031561_25031563del , CM000685.1:g.25031561_25031563del | GRCh37 |
| NC_000023.9:g.24941482_24941484del | NCBI36 |
| NG_008281.1:g.7512_7514del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.558_560del MANE Select | ENSP00000368332.4:p.Pro187del | |
| ENST00000379044.4:c.558_560del | ENSP00000368332.4:p.Pro187del | |
| NM_139058.2:c.558_560del | NP_620689.1:p.Pro187del | |
| NM_139058.3:c.558_560del MANE Select | NP_620689.1:p.Pro187del |