Canonical Allele Identifier: CA2497030069

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113706_11113708del , CM000681.2:g.11113706_11113708del	GRCh38
NC_000019.9:g.11224382_11224384del , CM000681.1:g.11224382_11224384del	GRCh37
NC_000019.8:g.11085382_11085384del	NCBI36
NG_009060.1:g.29326_29328del , LRG_274:g.29326_29328del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1788_1790del	ENSP00000252444.6:p.Leu597del
ENST00000559340.2:c.1530_1532del	ENSP00000453696.2:p.Leu511del
ENST00000560467.2:c.1410_1412del	ENSP00000453513.2:p.Leu471del
ENST00000558518.6:c.1530_1532del MANE Select	ENSP00000454071.1:p.Leu511del
ENST00000252444.9:c.1784_1786del
ENST00000455727.6:c.1026_1028del	ENSP00000397829.2:p.Leu343del
ENST00000535915.5:c.1407_1409del	ENSP00000440520.1:p.Leu470del
ENST00000545707.5:c.1149_1151del	ENSP00000437639.1:p.Leu384del
ENST00000557933.5:c.1530_1532del	ENSP00000453557.1:p.Leu511del
ENST00000558013.5:c.1530_1532del	ENSP00000453346.1:p.Leu511del
ENST00000558518.5:c.1530_1532del	ENSP00000454071.1:p.Leu511del
ENST00000559340.1:c.251_253del
NM_000527.4:c.1530_1532del , LRG_274t1:c.1530_1532del	NP_000518.1:p.Leu511del
NM_001195798.1:c.1530_1532del	NP_001182727.1:p.Leu511del
NM_001195799.1:c.1407_1409del	NP_001182728.1:p.Leu470del
NM_001195800.1:c.1026_1028del	NP_001182729.1:p.Leu343del
NM_001195803.1:c.1149_1151del	NP_001182732.1:p.Leu384del
XM_011528010.1:c.1530_1532del	XP_011526312.1:p.Leu511del
XM_011528011.1:c.1149_1151del	XP_011526313.1:p.Leu384del
XR_244074.2:n.1680_1682del
XM_011528010.2:c.1530_1532del	XP_011526312.1:p.Leu511del
XR_001753685.2:n.1647_1649del
XR_001753686.2:n.1647_1649del
NM_000527.5:c.1530_1532del MANE Select	NP_000518.1:p.Leu511del
NM_001195798.2:c.1530_1532del	NP_001182727.1:p.Leu511del
NM_001195799.2:c.1407_1409del	NP_001182728.1:p.Leu470del
NM_001195800.2:c.1026_1028del	NP_001182729.1:p.Leu343del
NM_001195803.2:c.1149_1151del	NP_001182732.1:p.Leu384del