Linked Data
ClinVar Variation Id:
99368
ClinVar RCV Id:
RCV000085722
dbSNP Id:
rs281865404
MyVariant Identifiers:
chr1:g.94480231_94480232delinsCA (hg19)
chr1:g.94014675_94014676delinsCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94014675_94014676delinsCA , CM000663.2:g.94014675_94014676delinsCA | GRCh38 |
| NC_000001.10:g.94480231_94480232delinsCA , CM000663.1:g.94480231_94480232delinsCA | GRCh37 |
| NC_000001.9:g.94252819_94252820delinsCA | NCBI36 |
| NG_009073.1:g.111474_111475delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5327_5328delinsTG MANE Select | ENSP00000359245.3:p.Pro1776Leu | |
| ENST00000370225.3:c.5327_5328delinsTG | ENSP00000359245.3:p.Pro1776Leu | |
| ENST00000536513.5:c.1703_1704delinsTG | ENSP00000439707.2:p.Pro568Leu | |
| NM_000350.2:c.5327_5328delinsTG | NP_000341.2:p.Pro1776Leu | |
| NM_000350.3:c.5327_5328delinsTG MANE Select | NP_000341.2:p.Pro1776Leu |