Canonical Allele Identifier: CA2497030035

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116101_11116105del , CM000681.2:g.11116101_11116105del	GRCh38
NC_000019.9:g.11226777_11226781del , CM000681.1:g.11226777_11226781del	GRCh37
NC_000019.8:g.11087777_11087781del	NCBI36
NG_009060.1:g.31721_31725del , LRG_274:g.31721_31725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1852_1856del	ENSP00000252444.6:p.Tyr618AspfsTer2
ENST00000559340.2:c.1594_1598del	ENSP00000453696.2:p.Tyr532AspfsTer2
ENST00000560467.2:c.1474_1478del	ENSP00000453513.2:p.Tyr492AspfsTer2
ENST00000558518.6:c.1594_1598del MANE Select	ENSP00000454071.1:p.Tyr532AspfsTer2
ENST00000252444.9:c.1848_1852del
ENST00000455727.6:c.1090_1094del	ENSP00000397829.2:p.Tyr364AspfsTer2
ENST00000535915.5:c.1471_1475del	ENSP00000440520.1:p.Tyr491AspfsTer2
ENST00000545707.5:c.1213_1217del	ENSP00000437639.1:p.Tyr405AspfsTer2
ENST00000557933.5:c.1594_1598del	ENSP00000453557.1:p.Tyr532AspfsTer2
ENST00000558013.5:c.1594_1598del	ENSP00000453346.1:p.Tyr532AspfsTer2
ENST00000558518.5:c.1594_1598del	ENSP00000454071.1:p.Tyr532AspfsTer2
ENST00000559340.1:c.315_319del
NM_000527.4:c.1594_1598del , LRG_274t1:c.1594_1598del	NP_000518.1:p.Tyr532AspfsTer2
NM_001195798.1:c.1594_1598del	NP_001182727.1:p.Tyr532AspfsTer2
NM_001195799.1:c.1471_1475del	NP_001182728.1:p.Tyr491AspfsTer2
NM_001195800.1:c.1090_1094del	NP_001182729.1:p.Tyr364AspfsTer2
NM_001195803.1:c.1213_1217del	NP_001182732.1:p.Tyr405AspfsTer2
XM_011528010.1:c.1594_1598del	XP_011526312.1:p.Tyr532AspfsTer2
XM_011528011.1:c.1213_1217del	XP_011526313.1:p.Tyr405AspfsTer2
XR_244074.2:n.1744_1748del
XM_011528010.2:c.1594_1598del	XP_011526312.1:p.Tyr532AspfsTer2
XR_001753685.2:n.1711_1715del
XR_001753686.2:n.1711_1715del
NM_000527.5:c.1594_1598del MANE Select	NP_000518.1:p.Tyr532AspfsTer2
NM_001195798.2:c.1594_1598del	NP_001182727.1:p.Tyr532AspfsTer2
NM_001195799.2:c.1471_1475del	NP_001182728.1:p.Tyr491AspfsTer2
NM_001195800.2:c.1090_1094del	NP_001182729.1:p.Tyr364AspfsTer2
NM_001195803.2:c.1213_1217del	NP_001182732.1:p.Tyr405AspfsTer2