Linked Data
ClinVar Variation Id:
156303
ClinVar RCV Id:
RCV000144387
dbSNP Id:
rs267606974
MyVariant Identifiers:
chrX:g.82764227del (hg19)
chrX:g.83509220del (hg38)
chrX:g.83509219del (hg38)
PubMed:
PMID:7839145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83509220del , CM000685.2:g.83509220del | GRCh38 |
| NC_000023.10:g.82764228del , CM000685.1:g.82764228del | GRCh37 |
| NC_000023.9:g.82650884del | NCBI36 |
| NG_009936.2:g.5960del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.896del MANE Select | ENSP00000495996.1:p.Lys299SerfsTer? | |
| ENST00000373200.4:c.896del | ENSP00000362296.2:p.Lys299SerfsTer? | |
| NM_000307.4:c.896del | NP_000298.3:p.Lys299SerfsTer? | |
| NM_000307.5:c.896del MANE Select | NP_000298.3:p.Lys299SerfsTer? |