Linked Data
ClinVar Variation Id:
157744
ClinVar RCV Id:
RCV000145043
dbSNP Id:
rs587783187
gnomAD v4:
X-25007186-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007190del , CM000685.2:g.25007190del | GRCh38 |
| NC_000023.10:g.25025307del , CM000685.1:g.25025307del | GRCh37 |
| NC_000023.9:g.24935228del | NCBI36 |
| NG_008281.1:g.13762del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1372del MANE Select | ENSP00000368332.4:p.Ala458ArgfsTer5 | |
| ENST00000379044.4:c.1372del | ENSP00000368332.4:p.Ala458ArgfsTer5 | |
| NM_139058.2:c.1372del | NP_620689.1:p.Ala458ArgfsTer5 | |
| NM_139058.3:c.1372del MANE Select | NP_620689.1:p.Ala458ArgfsTer5 |