Canonical Allele Identifier: CA2322771936

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113610_11113621delinsGCTGGCTGTGGA , CM000681.2:g.11113610_11113621delinsGCTGGCTGTGGA	GRCh38
NC_000019.9:g.11224286_11224297delinsGCTGGCTGTGGA , CM000681.1:g.11224286_11224297delinsGCTGGCTGTGGA	GRCh37
NC_000019.8:g.11085286_11085297delinsGCTGGCTGTGGA	NCBI36
NG_009060.1:g.29230_29241delinsGCTGGCTGTGGA , LRG_274:g.29230_29241delinsGCTGGCTGTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1692_1703delinsGCTGGCTGTGGA	ENSP00000252444.6:p.Gly564=
ENST00000559340.2:c.1434_1445delinsGCTGGCTGTGGA	ENSP00000453696.2:p.Gly478=
ENST00000560467.2:c.1314_1325delinsGCTGGCTGTGGA	ENSP00000453513.2:p.Gly438=
ENST00000558518.6:c.1434_1445delinsGCTGGCTGTGGA MANE Select	ENSP00000454071.1:p.Gly478=
ENST00000252444.9:c.1688_1699delinsGCTGGCTGTGGA
ENST00000455727.6:c.930_941delinsGCTGGCTGTGGA	ENSP00000397829.2:p.Gly310=
ENST00000535915.5:c.1311_1322delinsGCTGGCTGTGGA	ENSP00000440520.1:p.Gly437=
ENST00000545707.5:c.1053_1064delinsGCTGGCTGTGGA	ENSP00000437639.1:p.Gly351=
ENST00000557933.5:c.1434_1445delinsGCTGGCTGTGGA	ENSP00000453557.1:p.Gly478=
ENST00000558013.5:c.1434_1445delinsGCTGGCTGTGGA	ENSP00000453346.1:p.Gly478=
ENST00000558518.5:c.1434_1445delinsGCTGGCTGTGGA	ENSP00000454071.1:p.Gly478=
ENST00000559340.1:c.155_166delinsGCTGGCTGTGGA
ENST00000560467.1:c.914_925delinsGCTGGCTGTGGA
NM_000527.4:c.1434_1445delinsGCTGGCTGTGGA , LRG_274t1:c.1434_1445delinsGCTGGCTGTGGA	NP_000518.1:p.Gly478=
NM_001195798.1:c.1434_1445delinsGCTGGCTGTGGA	NP_001182727.1:p.Gly478=
NM_001195799.1:c.1311_1322delinsGCTGGCTGTGGA	NP_001182728.1:p.Gly437=
NM_001195800.1:c.930_941delinsGCTGGCTGTGGA	NP_001182729.1:p.Gly310=
NM_001195803.1:c.1053_1064delinsGCTGGCTGTGGA	NP_001182732.1:p.Gly351=
XM_011528010.1:c.1434_1445delinsGCTGGCTGTGGA	XP_011526312.1:p.Gly478=
XM_011528011.1:c.1053_1064delinsGCTGGCTGTGGA	XP_011526313.1:p.Gly351=
XR_244074.2:n.1584_1595delinsGCTGGCTGTGGA
XM_011528010.2:c.1434_1445delinsGCTGGCTGTGGA	XP_011526312.1:p.Gly478=
XR_001753685.2:n.1551_1562delinsGCTGGCTGTGGA
XR_001753686.2:n.1551_1562delinsGCTGGCTGTGGA
NM_000527.5:c.1434_1445delinsGCTGGCTGTGGA MANE Select	NP_000518.1:p.Gly478=
NM_001195798.2:c.1434_1445delinsGCTGGCTGTGGA	NP_001182727.1:p.Gly478=
NM_001195799.2:c.1311_1322delinsGCTGGCTGTGGA	NP_001182728.1:p.Gly437=
NM_001195800.2:c.930_941delinsGCTGGCTGTGGA	NP_001182729.1:p.Gly310=
NM_001195803.2:c.1053_1064delinsGCTGGCTGTGGA	NP_001182732.1:p.Gly351=