Canonical Allele Identifier: CA1139666266
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 972902
dbSNP Id: rs2077362782

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110721_11110724dup , CM000681.2:g.11110721_11110724dup GRCh38
NC_000019.9:g.11221397_11221400dup , CM000681.1:g.11221397_11221400dup GRCh37
NC_000019.8:g.11082397_11082400dup NCBI36
NG_009060.1:g.26341_26344dup , LRG_274:g.26341_26344dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1268_1271dup ENSP00000252444.6:p.Cys424Ter
ENST00000559340.2:c.1010_1013dup ENSP00000453696.2:p.Cys338Ter
ENST00000560467.2:c.941-793_941-790dup ENSP00000453513.2:n.941-793_941-790dup
ENST00000558518.6:c.1010_1013dup MANE Select ENSP00000454071.1:p.Cys338Ter
ENST00000252444.9:c.1264_1267dup
ENST00000455727.6:c.506_509dup ENSP00000397829.2:p.Cys170Ter
ENST00000535915.5:c.887_890dup ENSP00000440520.1:p.Cys297Ter
ENST00000545707.5:c.629_632dup ENSP00000437639.1:p.Cys211Ter
ENST00000557933.5:c.1010_1013dup ENSP00000453557.1:p.Cys338Ter
ENST00000558013.5:c.1010_1013dup ENSP00000453346.1:p.Cys338Ter
ENST00000558518.5:c.1010_1013dup ENSP00000454071.1:p.Cys338Ter
ENST00000560173.1:n.9_12dup
ENST00000560467.1:c.541-793_541-790dup
NM_000527.4:c.1010_1013dup , LRG_274t1:c.1010_1013dup NP_000518.1:p.Cys338Ter
NM_001195798.1:c.1010_1013dup NP_001182727.1:p.Cys338Ter
NM_001195799.1:c.887_890dup NP_001182728.1:p.Cys297Ter
NM_001195800.1:c.506_509dup NP_001182729.1:p.Cys170Ter
NM_001195803.1:c.629_632dup NP_001182732.1:p.Cys211Ter
XM_011528010.1:c.1010_1013dup XP_011526312.1:p.Cys338Ter
XM_011528011.1:c.629_632dup XP_011526313.1:p.Cys211Ter
XR_244074.2:n.1160_1163dup
XM_011528010.2:c.1010_1013dup XP_011526312.1:p.Cys338Ter
XR_001753685.2:n.1127_1130dup
XR_001753686.2:n.1127_1130dup
NM_000527.5:c.1010_1013dup MANE Select NP_000518.1:p.Cys338Ter
NM_001195798.2:c.1010_1013dup NP_001182727.1:p.Cys338Ter
NM_001195799.2:c.887_890dup NP_001182728.1:p.Cys297Ter
NM_001195800.2:c.506_509dup NP_001182729.1:p.Cys170Ter
NM_001195803.2:c.629_632dup NP_001182732.1:p.Cys211Ter