Linked Data
ClinVar Variation Id:
372509
ClinVar RCV Id:
RCV000414623
dbSNP Id:
rs1057517823
MyVariant Identifiers:
chr8:g.143822627_143822633delinsCT (hg19)
chr8:g.142741209_142741215delinsCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741209_142741215delinsCT , CM000670.2:g.142741209_142741215delinsCT | GRCh38 |
| NC_000008.10:g.143822627_143822633delinsCT , CM000670.1:g.143822627_143822633delinsCT | GRCh37 |
| NC_000008.9:g.143819629_143819635delinsCT | NCBI36 |
| NG_011494.1:g.6197_6203delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246515.2:c.240_246delinsAG MANE Select | ENSP00000246515.1:p.Asp81GlyfsTer? | |
| ENST00000246515.1:c.240_246delinsAG | ENSP00000246515.1:p.Asp81GlyfsTer? | |
| NM_020427.2:c.240_246delinsAG | NP_065160.1:p.Asp81GlyfsTer? | |
| NM_020427.3:c.240_246delinsAG MANE Select | NP_065160.1:p.Asp81GlyfsTer? |