Canonical Allele Identifier: CA2573050595

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111604_11111612delinsTAGCTGGAG , CM000681.2:g.11111604_11111612delinsTAGCTGGAG	GRCh38
NC_000019.9:g.11222280_11222288delinsTAGCTGGAG , CM000681.1:g.11222280_11222288delinsTAGCTGGAG	GRCh37
NC_000019.8:g.11083280_11083288delinsTAGCTGGAG	NCBI36
NG_009060.1:g.27224_27232delinsTAGCTGGAG , LRG_274:g.27224_27232delinsTAGCTGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1409_1417delinsTAGCTGGAG	ENSP00000252444.6:p.Gln470_Pro473delinsLeuAlaGlyAla
ENST00000559340.2:c.1151_1159delinsTAGCTGGAG	ENSP00000453696.2:p.Gln384_Pro387delinsLeuAlaGlyAla
ENST00000560467.2:c.1031_1039delinsTAGCTGGAG	ENSP00000453513.2:p.Gln344_Pro347delinsLeuAlaGlyAla
ENST00000558518.6:c.1151_1159delinsTAGCTGGAG MANE Select	ENSP00000454071.1:p.Gln384_Pro387delinsLeuAlaGlyAla
ENST00000252444.9:c.1405_1413delinsTAGCTGGAG
ENST00000455727.6:c.647_655delinsTAGCTGGAG	ENSP00000397829.2:p.Gln216_Pro219delinsLeuAlaGlyAla
ENST00000535915.5:c.1028_1036delinsTAGCTGGAG	ENSP00000440520.1:p.Gln343_Pro346delinsLeuAlaGlyAla
ENST00000545707.5:c.770_778delinsTAGCTGGAG	ENSP00000437639.1:p.Gln257_Pro260delinsLeuAlaGlyAla
ENST00000557933.5:c.1151_1159delinsTAGCTGGAG	ENSP00000453557.1:p.Gln384_Pro387delinsLeuAlaGlyAla
ENST00000558013.5:c.1151_1159delinsTAGCTGGAG	ENSP00000453346.1:p.Gln384_Pro387delinsLeuAlaGlyAla
ENST00000558518.5:c.1151_1159delinsTAGCTGGAG	ENSP00000454071.1:p.Gln384_Pro387delinsLeuAlaGlyAla
ENST00000560173.1:n.150_158delinsTAGCTGGAG
ENST00000560467.1:c.631_639delinsTAGCTGGAG
NM_000527.4:c.1151_1159delinsTAGCTGGAG , LRG_274t1:c.1151_1159delinsTAGCTGGAG	NP_000518.1:p.Gln384_Pro387delinsLeuAlaGlyAla
NM_001195798.1:c.1151_1159delinsTAGCTGGAG	NP_001182727.1:p.Gln384_Pro387delinsLeuAlaGlyAla
NM_001195799.1:c.1028_1036delinsTAGCTGGAG	NP_001182728.1:p.Gln343_Pro346delinsLeuAlaGlyAla
NM_001195800.1:c.647_655delinsTAGCTGGAG	NP_001182729.1:p.Gln216_Pro219delinsLeuAlaGlyAla
NM_001195803.1:c.770_778delinsTAGCTGGAG	NP_001182732.1:p.Gln257_Pro260delinsLeuAlaGlyAla
XM_011528010.1:c.1151_1159delinsTAGCTGGAG	XP_011526312.1:p.Gln384_Pro387delinsLeuAlaGlyAla
XM_011528011.1:c.770_778delinsTAGCTGGAG	XP_011526313.1:p.Gln257_Pro260delinsLeuAlaGlyAla
XR_244074.2:n.1301_1309delinsTAGCTGGAG
XM_011528010.2:c.1151_1159delinsTAGCTGGAG	XP_011526312.1:p.Gln384_Pro387delinsLeuAlaGlyAla
XR_001753685.2:n.1268_1276delinsTAGCTGGAG
XR_001753686.2:n.1268_1276delinsTAGCTGGAG
NM_000527.5:c.1151_1159delinsTAGCTGGAG MANE Select	NP_000518.1:p.Gln384_Pro387delinsLeuAlaGlyAla
NM_001195798.2:c.1151_1159delinsTAGCTGGAG	NP_001182727.1:p.Gln384_Pro387delinsLeuAlaGlyAla
NM_001195799.2:c.1028_1036delinsTAGCTGGAG	NP_001182728.1:p.Gln343_Pro346delinsLeuAlaGlyAla
NM_001195800.2:c.647_655delinsTAGCTGGAG	NP_001182729.1:p.Gln216_Pro219delinsLeuAlaGlyAla
NM_001195803.2:c.770_778delinsTAGCTGGAG	NP_001182732.1:p.Gln257_Pro260delinsLeuAlaGlyAla