Canonical Allele Identifier: CA2322773272

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116146_11116159delinsCTGAATGGTGTGGA , CM000681.2:g.11116146_11116159delinsCTGAATGGTGTGGA	GRCh38
NC_000019.9:g.11226822_11226835delinsCTGAATGGTGTGGA , CM000681.1:g.11226822_11226835delinsCTGAATGGTGTGGA	GRCh37
NC_000019.8:g.11087822_11087835delinsCTGAATGGTGTGGA	NCBI36
NG_009060.1:g.31766_31779delinsCTGAATGGTGTGGA , LRG_274:g.31766_31779delinsCTGAATGGTGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1897_1910delinsCTGAATGGTGTGGA	ENSP00000252444.6:p.Leu633=
ENST00000559340.2:c.1639_1652delinsCTGAATGGTGTGGA	ENSP00000453696.2:p.Leu547=
ENST00000560467.2:c.1519_1532delinsCTGAATGGTGTGGA	ENSP00000453513.2:p.Leu507=
ENST00000558518.6:c.1639_1652delinsCTGAATGGTGTGGA MANE Select	ENSP00000454071.1:p.Leu547=
ENST00000252444.9:c.1893_1906delinsCTGAATGGTGTGGA
ENST00000455727.6:c.1135_1148delinsCTGAATGGTGTGGA	ENSP00000397829.2:p.Leu379=
ENST00000535915.5:c.1516_1529delinsCTGAATGGTGTGGA	ENSP00000440520.1:p.Leu506=
ENST00000545707.5:c.1258_1271delinsCTGAATGGTGTGGA	ENSP00000437639.1:p.Leu420=
ENST00000557933.5:c.1639_1652delinsCTGAATGGTGTGGA	ENSP00000453557.1:p.Leu547=
ENST00000558013.5:c.1639_1652delinsCTGAATGGTGTGGA	ENSP00000453346.1:p.Leu547=
ENST00000558518.5:c.1639_1652delinsCTGAATGGTGTGGA	ENSP00000454071.1:p.Leu547=
ENST00000559340.1:c.360_373delinsCTGAATGGTGTGGA
NM_000527.4:c.1639_1652delinsCTGAATGGTGTGGA , LRG_274t1:c.1639_1652delinsCTGAATGGTGTGGA	NP_000518.1:p.Leu547=
NM_001195798.1:c.1639_1652delinsCTGAATGGTGTGGA	NP_001182727.1:p.Leu547=
NM_001195799.1:c.1516_1529delinsCTGAATGGTGTGGA	NP_001182728.1:p.Leu506=
NM_001195800.1:c.1135_1148delinsCTGAATGGTGTGGA	NP_001182729.1:p.Leu379=
NM_001195803.1:c.1258_1271delinsCTGAATGGTGTGGA	NP_001182732.1:p.Leu420=
XM_011528010.1:c.1639_1652delinsCTGAATGGTGTGGA	XP_011526312.1:p.Leu547=
XM_011528011.1:c.1258_1271delinsCTGAATGGTGTGGA	XP_011526313.1:p.Leu420=
XR_244074.2:n.1789_1802delinsCTGAATGGTGTGGA
XM_011528010.2:c.1639_1652delinsCTGAATGGTGTGGA	XP_011526312.1:p.Leu547=
XR_001753685.2:n.1756_1769delinsCTGAATGGTGTGGA
XR_001753686.2:n.1756_1769delinsCTGAATGGTGTGGA
NM_000527.5:c.1639_1652delinsCTGAATGGTGTGGA MANE Select	NP_000518.1:p.Leu547=
NM_001195798.2:c.1639_1652delinsCTGAATGGTGTGGA	NP_001182727.1:p.Leu547=
NM_001195799.2:c.1516_1529delinsCTGAATGGTGTGGA	NP_001182728.1:p.Leu506=
NM_001195800.2:c.1135_1148delinsCTGAATGGTGTGGA	NP_001182729.1:p.Leu379=
NM_001195803.2:c.1258_1271delinsCTGAATGGTGTGGA	NP_001182732.1:p.Leu420=