Canonical Allele Identifier: CA10585021
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251331
ClinVar RCV Id: RCV000238263
dbSNP Id: rs879254599
MyVariant Identifiers: chr19:g.11216207_11216208dupTG (hg19) chr19:g.11105531_11105532dupTG (hg38)
PubMed: PMID:11754108 PMID:22698793
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105531_11105532dup , CM000681.2:g.11105531_11105532dup GRCh38
NC_000019.9:g.11216207_11216208dup , CM000681.1:g.11216207_11216208dup GRCh37
NC_000019.8:g.11077207_11077208dup NCBI36
NG_009060.1:g.21151_21152dup , LRG_274:g.21151_21152dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.883_884dup ENSP00000252444.6:p.Ile296AlafsTer?
ENST00000559340.2:c.625_626dup ENSP00000453696.2:p.Ile210AlafsTer?
ENST00000560467.2:c.625_626dup ENSP00000453513.2:p.Ile210AlafsTer?
ENST00000558518.6:c.625_626dup MANE Select ENSP00000454071.1:p.Ile210AlafsTer?
ENST00000252444.9:c.879_880dup
ENST00000455727.6:c.314-1861_314-1860dup ENSP00000397829.2:n.314-1861_314-1860dup
ENST00000535915.5:c.502_503dup ENSP00000440520.1:p.Ile169AlafsTer?
ENST00000545707.5:c.314-1034_314-1033dup ENSP00000437639.1:n.314-1034_314-1033dup
ENST00000557933.5:c.625_626dup ENSP00000453557.1:p.Ile210AlafsTer?
ENST00000558013.5:c.625_626dup ENSP00000453346.1:p.Ile210AlafsTer?
ENST00000558518.5:c.625_626dup ENSP00000454071.1:p.Ile210AlafsTer?
ENST00000560467.1:c.225_226dup
NM_000527.4:c.625_626dup , LRG_274t1:c.625_626dup NP_000518.1:p.Ile210AlafsTer?
NM_001195798.1:c.625_626dup NP_001182727.1:p.Ile210AlafsTer?
NM_001195799.1:c.502_503dup NP_001182728.1:p.Ile169AlafsTer?
NM_001195800.1:c.314-1861_314-1860dup NP_001182729.1:n.314-1861_314-1860dup
NM_001195803.1:c.314-1034_314-1033dup NP_001182732.1:n.314-1034_314-1033dup
XM_011528010.1:c.625_626dup XP_011526312.1:p.Ile210AlafsTer?
XM_011528011.1:c.314-1034_314-1033dup XP_011526313.1:n.314-1034_314-1033dup
XR_244074.2:n.775_776dup
XM_011528010.2:c.625_626dup XP_011526312.1:p.Ile210AlafsTer?
XR_001753685.2:n.742_743dup
XR_001753686.2:n.742_743dup
NM_000527.5:c.625_626dup MANE Select NP_000518.1:p.Ile210AlafsTer?
NM_001195798.2:c.625_626dup NP_001182727.1:p.Ile210AlafsTer?
NM_001195799.2:c.502_503dup NP_001182728.1:p.Ile169AlafsTer?
NM_001195800.2:c.314-1861_314-1860dup NP_001182729.1:n.314-1861_314-1860dup
NM_001195803.2:c.314-1034_314-1033dup NP_001182732.1:n.314-1034_314-1033dup
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