Canonical Allele Identifier: CA2739276485
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2824015
ClinVar RCV Id: RCV003741872

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107511_11107512dup , CM000681.2:g.11107511_11107512dup GRCh38
NC_000019.9:g.11218187_11218188dup , CM000681.1:g.11218187_11218188dup GRCh37
NC_000019.8:g.11079187_11079188dup NCBI36
NG_009060.1:g.23131_23132dup , LRG_274:g.23131_23132dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1195_1196dup ENSP00000252444.6:p.Gly400AlafsTer?
ENST00000559340.2:c.937_938dup ENSP00000453696.2:p.Gly314AlafsTer?
ENST00000560467.2:c.937_938dup ENSP00000453513.2:p.Asp314AlafsTer17
ENST00000558518.6:c.937_938dup MANE Select ENSP00000454071.1:p.Gly314AlafsTer?
ENST00000252444.9:c.1191_1192dup
ENST00000455727.6:c.433_434dup ENSP00000397829.2:p.Gly146AlafsTer?
ENST00000535915.5:c.814_815dup ENSP00000440520.1:p.Gly273AlafsTer?
ENST00000545707.5:c.556_557dup ENSP00000437639.1:p.Gly187AlafsTer?
ENST00000557933.5:c.937_938dup ENSP00000453557.1:p.Gly314AlafsTer?
ENST00000558013.5:c.937_938dup ENSP00000453346.1:p.Gly314AlafsTer?
ENST00000558518.5:c.937_938dup ENSP00000454071.1:p.Gly314AlafsTer?
ENST00000558528.1:n.452_453dup
ENST00000560467.1:c.537_538dup
NM_000527.4:c.937_938dup , LRG_274t1:c.937_938dup NP_000518.1:p.Gly314AlafsTer?
NM_001195798.1:c.937_938dup NP_001182727.1:p.Gly314AlafsTer?
NM_001195799.1:c.814_815dup NP_001182728.1:p.Gly273AlafsTer?
NM_001195800.1:c.433_434dup NP_001182729.1:p.Gly146AlafsTer?
NM_001195803.1:c.556_557dup NP_001182732.1:p.Gly187AlafsTer?
XM_011528010.1:c.937_938dup XP_011526312.1:p.Gly314AlafsTer?
XM_011528011.1:c.556_557dup XP_011526313.1:p.Gly187AlafsTer?
XR_244074.2:n.1087_1088dup
XM_011528010.2:c.937_938dup XP_011526312.1:p.Gly314AlafsTer?
XR_001753685.2:n.1054_1055dup
XR_001753686.2:n.1054_1055dup
NM_000527.5:c.937_938dup MANE Select NP_000518.1:p.Gly314AlafsTer?
NM_001195798.2:c.937_938dup NP_001182727.1:p.Gly314AlafsTer?
NM_001195799.2:c.814_815dup NP_001182728.1:p.Gly273AlafsTer?
NM_001195800.2:c.433_434dup NP_001182729.1:p.Gly146AlafsTer?
NM_001195803.2:c.556_557dup NP_001182732.1:p.Gly187AlafsTer?