Linked Data
ClinVar Variation Id:
93760
ClinVar RCV Id:
RCV000175695
dbSNP Id:
rs398123619
MyVariant Identifiers:
chrX:g.153599572del (hg19)
chrX:g.153599572delG (hg19)
chrX:g.154371204del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154371204del , CM000685.2:g.154371204del | GRCh38 |
| NC_000023.10:g.153599572del , CM000685.1:g.153599572del | GRCh37 |
| NC_000023.9:g.153252766del | NCBI36 |
| NG_008677.1:g.1777del , LRG_745:g.1777del | |
| NG_011506.1:g.8435del | |
| NG_011506.2:g.8435del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360319.9:c.42del | ENSP00000353467.4:p.Ala15ArgfsTer? | |
| ENST00000369850.10:c.42del MANE Select | ENSP00000358866.3:p.Ala15ArgfsTer? | |
| ENST00000369856.8:c.-40del | ENSP00000358872.4:n.-40del | |
| ENST00000422373.6:c.42del | ENSP00000416926.2:p.Ala15ArgfsTer? | |
| ENST00000610817.5:c.42del | ENSP00000480593.2:p.Ala15ArgfsTer? | |
| ENST00000676696.1:c.42del | ENSP00000503392.1:p.Ala15ArgfsTer? | |
| ENST00000344736.8:c.42del | ENSP00000358863.3:p.Ala15ArgfsTer? | |
| ENST00000360319.8:c.42del | ENSP00000353467.4:p.Ala15ArgfsTer? | |
| ENST00000369850.7:c.42del | ENSP00000358866.3:p.Ala15ArgfsTer? | |
| ENST00000369856.7:c.-40del | ENSP00000358872.4:n.-40del | |
| ENST00000422373.5:c.42del | ENSP00000416926.1:p.Ala15ArgfsTer? | |
| ENST00000610817.4:c.-40del | ENSP00000480593.1:n.-40del | |
| NM_001110556.1:c.42del | NP_001104026.1:p.Ala15ArgfsTer? | |
| NM_001456.3:c.42del | NP_001447.2:p.Ala15ArgfsTer? | |
| XM_011531127.1:c.42del | XP_011529429.1:p.Ala15ArgfsTer? | |
| XM_011531128.1:c.42del | XP_011529430.1:p.Ala15ArgfsTer? | |
| XM_011531129.1:c.42del | XP_011529431.1:p.Ala15ArgfsTer? | |
| XM_011531130.1:c.42del | XP_011529432.1:p.Ala15ArgfsTer? | |
| XM_011531131.1:c.42del | XP_011529433.1:p.Ala15ArgfsTer? | |
| NM_001110556.2:c.42del MANE Select | NP_001104026.1:p.Ala15ArgfsTer? | |
| NM_001456.4:c.42del | NP_001447.2:p.Ala15ArgfsTer? |