Canonical Allele Identifier: CA16602309
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375792
ClinVar RCV Id: RCV000417283
dbSNP Id: rs1057519659

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105580_11105589del , CM000681.2:g.11105580_11105589del GRCh38
NC_000019.9:g.11216256_11216265del , CM000681.1:g.11216256_11216265del GRCh37
NC_000019.8:g.11077256_11077265del NCBI36
NG_009060.1:g.21200_21209del , LRG_274:g.21200_21209del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.932_941del ENSP00000252444.6:p.Lys311ArgfsTer?
ENST00000559340.2:c.674_683del ENSP00000453696.2:p.Lys225ArgfsTer?
ENST00000560467.2:c.674_683del ENSP00000453513.2:p.Lys225ArgfsTer?
ENST00000558518.6:c.674_683del MANE Select ENSP00000454071.1:p.Lys225ArgfsTer?
ENST00000252444.9:c.928_937del
ENST00000455727.6:c.314-1812_314-1803del ENSP00000397829.2:n.314-1812_314-1803del
ENST00000535915.5:c.551_560del ENSP00000440520.1:p.Lys184ArgfsTer?
ENST00000545707.5:c.314-985_314-976del ENSP00000437639.1:n.314-985_314-976del
ENST00000557933.5:c.674_683del ENSP00000453557.1:p.Lys225ArgfsTer?
ENST00000558013.5:c.674_683del ENSP00000453346.1:p.Lys225ArgfsTer?
ENST00000558518.5:c.674_683del ENSP00000454071.1:p.Lys225ArgfsTer?
ENST00000560467.1:c.274_283del
NM_000527.4:c.674_683del , LRG_274t1:c.674_683del NP_000518.1:p.Lys225ArgfsTer?
NM_001195798.1:c.674_683del NP_001182727.1:p.Lys225ArgfsTer?
NM_001195799.1:c.551_560del NP_001182728.1:p.Lys184ArgfsTer?
NM_001195800.1:c.314-1812_314-1803del NP_001182729.1:n.314-1812_314-1803del
NM_001195803.1:c.314-985_314-976del NP_001182732.1:n.314-985_314-976del
XM_011528010.1:c.674_683del XP_011526312.1:p.Lys225ArgfsTer?
XM_011528011.1:c.314-985_314-976del XP_011526313.1:n.314-985_314-976del
XR_244074.2:n.824_833del
XM_011528010.2:c.674_683del XP_011526312.1:p.Lys225ArgfsTer?
XR_001753685.2:n.791_800del
XR_001753686.2:n.791_800del
NM_000527.5:c.674_683del MANE Select NP_000518.1:p.Lys225ArgfsTer?
NM_001195798.2:c.674_683del NP_001182727.1:p.Lys225ArgfsTer?
NM_001195799.2:c.551_560del NP_001182728.1:p.Lys184ArgfsTer?
NM_001195800.2:c.314-1812_314-1803del NP_001182729.1:n.314-1812_314-1803del
NM_001195803.2:c.314-985_314-976del NP_001182732.1:n.314-985_314-976del