Linked Data
ClinVar Variation Id:
42170
ClinVar RCV Id:
RCV000034997
dbSNP Id:
rs386134170
MyVariant Identifiers:
chr19:g.54393191_54393192delinsTT (hg19)
chr19:g.53889937_53889938delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53889937_53889938delinsTT , CM000681.2:g.53889937_53889938delinsTT | GRCh38 |
| NC_000019.9:g.54393191_54393192delinsTT , CM000681.1:g.54393191_54393192delinsTT | GRCh37 |
| NC_000019.8:g.59085003_59085004delinsTT | NCBI36 |
| NG_009114.1:g.12725_12726delinsTT , LRG_669:g.12725_12726delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.449_450delinsTT | ENSP00000507230.1:p.Cys150Phe | |
| ENST00000682268.1:n.747_748delinsTT | ||
| ENST00000682902.1:n.751_752delinsTT | ||
| ENST00000683513.1:c.449_450delinsTT | ENSP00000506809.1:p.Cys150Phe | |
| ENST00000263431.4:c.449_450delinsTT MANE Select | ENSP00000263431.3:p.Cys150Phe | |
| ENST00000263431.3:c.449_450delinsTT | ENSP00000263431.3:p.Cys150Phe | |
| ENST00000419486.1:c.65_66delinsTT | ENSP00000387919.2:p.Cys22Phe | |
| ENST00000474397.5:c.65_66delinsTT | ENSP00000471271.1:p.Cys22Phe | |
| NM_001316329.1:c.449_450delinsTT | NP_001303258.1:p.Cys150Phe | |
| NM_002739.3:c.449_450delinsTT , LRG_669t1:c.449_450delinsTT | NP_002730.1:p.Cys150Phe | |
| NM_002739.4:c.449_450delinsTT | NP_002730.1:p.Cys150Phe | |
| NM_002739.5:c.449_450delinsTT MANE Select | NP_002730.1:p.Cys150Phe | |
| NM_001316329.2:c.449_450delinsTT | NP_001303258.1:p.Cys150Phe |