Canonical Allele Identifier: CA2573050609

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116156_11116175del , CM000681.2:g.11116156_11116175del	GRCh38
NC_000019.9:g.11226832_11226851del , CM000681.1:g.11226832_11226851del	GRCh37
NC_000019.8:g.11087832_11087851del	NCBI36
NG_009060.1:g.31776_31795del , LRG_274:g.31776_31795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1907_1926del	ENSP00000252444.6:p.Val636AspfsTer2
ENST00000559340.2:c.1649_1668del	ENSP00000453696.2:p.Val550AspfsTer2
ENST00000560467.2:c.1529_1548del	ENSP00000453513.2:p.Val510AspfsTer2
ENST00000558518.6:c.1649_1668del MANE Select	ENSP00000454071.1:p.Val550AspfsTer2
ENST00000252444.9:c.1903_1922del
ENST00000455727.6:c.1145_1164del	ENSP00000397829.2:p.Val382AspfsTer2
ENST00000535915.5:c.1526_1545del	ENSP00000440520.1:p.Val509AspfsTer2
ENST00000545707.5:c.1268_1287del	ENSP00000437639.1:p.Val423AspfsTer2
ENST00000557933.5:c.1649_1668del	ENSP00000453557.1:p.Val550AspfsTer2
ENST00000558013.5:c.1649_1668del	ENSP00000453346.1:p.Val550AspfsTer2
ENST00000558518.5:c.1649_1668del	ENSP00000454071.1:p.Val550AspfsTer2
ENST00000559340.1:c.370_389del
NM_000527.4:c.1649_1668del , LRG_274t1:c.1649_1668del	NP_000518.1:p.Val550AspfsTer2
NM_001195798.1:c.1649_1668del	NP_001182727.1:p.Val550AspfsTer2
NM_001195799.1:c.1526_1545del	NP_001182728.1:p.Val509AspfsTer2
NM_001195800.1:c.1145_1164del	NP_001182729.1:p.Val382AspfsTer2
NM_001195803.1:c.1268_1287del	NP_001182732.1:p.Val423AspfsTer2
XM_011528010.1:c.1649_1668del	XP_011526312.1:p.Val550AspfsTer2
XM_011528011.1:c.1268_1287del	XP_011526313.1:p.Val423AspfsTer2
XR_244074.2:n.1799_1818del
XM_011528010.2:c.1649_1668del	XP_011526312.1:p.Val550AspfsTer2
XR_001753685.2:n.1766_1785del
XR_001753686.2:n.1766_1785del
NM_000527.5:c.1649_1668del MANE Select	NP_000518.1:p.Val550AspfsTer2
NM_001195798.2:c.1649_1668del	NP_001182727.1:p.Val550AspfsTer2
NM_001195799.2:c.1526_1545del	NP_001182728.1:p.Val509AspfsTer2
NM_001195800.2:c.1145_1164del	NP_001182729.1:p.Val382AspfsTer2
NM_001195803.2:c.1268_1287del	NP_001182732.1:p.Val423AspfsTer2