Canonical Allele Identifier: CA645373226
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430758
ClinVar RCV Id: RCV000495905
dbSNP Id: rs1131692195

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105471_11105474delinsTG , CM000681.2:g.11105471_11105474delinsTG GRCh38
NC_000019.9:g.11216147_11216150delinsTG , CM000681.1:g.11216147_11216150delinsTG GRCh37
NC_000019.8:g.11077147_11077150delinsTG NCBI36
NG_009060.1:g.21091_21094delinsTG , LRG_274:g.21091_21094delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.823_826delinsTG ENSP00000252444.6:p.Val275CysfsTer6
ENST00000559340.2:c.565_568delinsTG ENSP00000453696.2:p.Val189CysfsTer6
ENST00000560467.2:c.565_568delinsTG ENSP00000453513.2:p.Val189CysfsTer6
ENST00000558518.6:c.565_568delinsTG MANE Select ENSP00000454071.1:p.Val189CysfsTer6
ENST00000252444.9:c.819_822delinsTG
ENST00000455727.6:c.314-1921_314-1918delinsTG ENSP00000397829.2:n.314-1921_314-1918deli...
ENST00000535915.5:c.442_445delinsTG ENSP00000440520.1:p.Val148CysfsTer6
ENST00000545707.5:c.314-1094_314-1091delinsTG ENSP00000437639.1:n.314-1094_314-1091deli...
ENST00000557933.5:c.565_568delinsTG ENSP00000453557.1:p.Val189CysfsTer6
ENST00000558013.5:c.565_568delinsTG ENSP00000453346.1:p.Val189CysfsTer6
ENST00000558518.5:c.565_568delinsTG ENSP00000454071.1:p.Val189CysfsTer6
ENST00000560467.1:c.165_168delinsTG
NM_000527.4:c.565_568delinsTG , LRG_274t1:c.565_568delinsTG NP_000518.1:p.Val189CysfsTer6
NM_001195798.1:c.565_568delinsTG NP_001182727.1:p.Val189CysfsTer6
NM_001195799.1:c.442_445delinsTG NP_001182728.1:p.Val148CysfsTer6
NM_001195800.1:c.314-1921_314-1918delinsTG NP_001182729.1:n.314-1921_314-1918delinsT...
NM_001195803.1:c.314-1094_314-1091delinsTG NP_001182732.1:n.314-1094_314-1091delinsT...
XM_011528010.1:c.565_568delinsTG XP_011526312.1:p.Val189CysfsTer6
XM_011528011.1:c.314-1094_314-1091delinsTG XP_011526313.1:n.314-1094_314-1091delinsT...
XR_244074.2:n.715_718delinsTG
XM_011528010.2:c.565_568delinsTG XP_011526312.1:p.Val189CysfsTer6
XR_001753685.2:n.682_685delinsTG
XR_001753686.2:n.682_685delinsTG
NM_000527.5:c.565_568delinsTG MANE Select NP_000518.1:p.Val189CysfsTer6
NM_001195798.2:c.565_568delinsTG NP_001182727.1:p.Val189CysfsTer6
NM_001195799.2:c.442_445delinsTG NP_001182728.1:p.Val148CysfsTer6
NM_001195800.2:c.314-1921_314-1918delinsTG NP_001182729.1:n.314-1921_314-1918delinsT...
NM_001195803.2:c.314-1094_314-1091delinsTG NP_001182732.1:n.314-1094_314-1091delinsT...