Linked Data
ClinVar Variation Id:
162471
ClinVar RCV Id:
RCV000149856
dbSNP Id:
rs724160013
MyVariant Identifiers:
chr19:g.14208434_14208436dupCAC (hg19)
chr19:g.14208433_14208434insCAC (hg19)
chr19:g.14097622_14097624dupCAC (hg38)
chr19:g.14097621_14097622insCAC (hg38)
PubMed:
PMID:24571724
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14097622_14097624dup , CM000681.2:g.14097622_14097624dup | GRCh38 |
| NC_000019.9:g.14208434_14208436dup , CM000681.1:g.14208434_14208436dup | GRCh37 |
| NC_000019.8:g.14069434_14069436dup | NCBI36 |
| NG_029699.1:g.25124_25126dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308677.9:c.597_599dup MANE Select | ENSP00000309591.3:p.Leu199_Cys200insTrp | |
| ENST00000589994.6:c.573_575dup | ENSP00000466651.1:p.Leu191_Cys192insTrp | |
| ENST00000677951.1:c.423_425dup | ENSP00000504551.1:p.Leu141_Cys142insTrp | |
| ENST00000677971.1:c.*175_*177dup | ENSP00000502958.1:n.*175_*177dup | |
| ENST00000679067.1:n.798_800dup | ||
| ENST00000308677.8:c.597_599dup | ENSP00000309591.3:p.Leu199_Cys200insTrp | |
| ENST00000350356.7:n.1231_1233dup | ||
| ENST00000536649.5:n.966_968dup | ||
| ENST00000587372.5:c.461_463dup | ||
| ENST00000587533.1:n.842_844dup | ||
| ENST00000588209.5:n.631_633dup | ||
| ENST00000589994.5:c.573_575dup | ENSP00000466651.1:p.Leu191_Cys192insTrp | |
| ENST00000590853.5:c.109-4781_109-4779dup | ENSP00000466976.1:n.109-4781_109-4779dup | |
| ENST00000593092.1:c.546_548dup | ENSP00000466289.1:p.Leu182_Cys183insTrp | |
| NM_001304349.1:c.825_827dup | NP_001291278.1:p.Leu275_Cys276insTrp | |
| NM_002730.3:c.597_599dup | NP_002721.1:p.Leu199_Cys200insTrp | |
| NM_207518.2:c.573_575dup | NP_997401.1:p.Leu191_Cys192insTrp | |
| XM_017026948.1:c.597_599dup | XP_016882437.1:p.Leu199_Cys200insTrp | |
| NM_002730.4:c.597_599dup MANE Select | NP_002721.1:p.Leu199_Cys200insTrp | |
| NM_207518.3:c.573_575dup | NP_997401.1:p.Leu191_Cys192insTrp | |
| NM_001304349.2:c.825_827dup | NP_001291278.1:p.Leu275_Cys276insTrp |