Canonical Allele Identifier: CA2322779512

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128015_11128036delinsCGACGTTGCTGGCAGAGGAAAT , CM000681.2:g.11128015_11128036delinsCGACGTTGCTGGCAGAGGAAAT	GRCh38
NC_000019.9:g.11238691_11238712delinsCGACGTTGCTGGCAGAGGAAAT , CM000681.1:g.11238691_11238712delinsCGACGTTGCTGGCAGAGGAAAT	GRCh37
NC_000019.8:g.11099691_11099712delinsCGACGTTGCTGGCAGAGGAAAT	NCBI36
NG_009060.1:g.43635_43656delinsCGACGTTGCTGGCAGAGGAAAT , LRG_274:g.43635_43656delinsCGACGTTGCTGGCAGAGGAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2577_2598delinsCGACGTTGCTGGCAGAGGAAAT	ENSP00000252444.6:p.Gly859=
ENST00000559340.2:c.*388_*409delinsCGACGTTGCTGGCAGAGGAAAT	ENSP00000453696.2:n.*388_*409delinsCGACGTTGCTGGCAGAGGAAAT
ENST00000560467.2:c.2199_2220delinsCGACGTTGCTGGCAGAGGAAAT	ENSP00000453513.2:p.Gly733=
ENST00000558518.6:c.2319_2340delinsCGACGTTGCTGGCAGAGGAAAT MANE Select	ENSP00000454071.1:p.Gly773=
ENST00000252444.9:c.2573_2594delinsCGACGTTGCTGGCAGAGGAAAT
ENST00000455727.6:c.1815_1836delinsCGACGTTGCTGGCAGAGGAAAT	ENSP00000397829.2:p.Gly605=
ENST00000535915.5:c.2196_2217delinsCGACGTTGCTGGCAGAGGAAAT	ENSP00000440520.1:p.Gly732=
ENST00000545707.5:c.1785_1806delinsCGACGTTGCTGGCAGAGGAAAT	ENSP00000437639.1:p.Gly595=
ENST00000557933.5:c.2319_2340delinsCGACGTTGCTGGCAGAGGAAAT	ENSP00000453557.1:p.Gly773=
ENST00000558013.5:c.2319_2340delinsCGACGTTGCTGGCAGAGGAAAT	ENSP00000453346.1:p.Gly773=
ENST00000558518.5:c.2319_2340delinsCGACGTTGCTGGCAGAGGAAAT	ENSP00000454071.1:p.Gly773=
ENST00000560628.1:n.108+361_108+382delinsCGACGTTGCTGGCAGAGGAAAT
NM_000527.4:c.2319_2340delinsCGACGTTGCTGGCAGAGGAAAT , LRG_274t1:c.2319_2340delinsCGACGTTGCTGGCAGAGGAAAT	NP_000518.1:p.Gly773=
NM_001195798.1:c.2319_2340delinsCGACGTTGCTGGCAGAGGAAAT	NP_001182727.1:p.Gly773=
NM_001195799.1:c.2196_2217delinsCGACGTTGCTGGCAGAGGAAAT	NP_001182728.1:p.Gly732=
NM_001195800.1:c.1815_1836delinsCGACGTTGCTGGCAGAGGAAAT	NP_001182729.1:p.Gly605=
NM_001195803.1:c.1785_1806delinsCGACGTTGCTGGCAGAGGAAAT	NP_001182732.1:p.Gly595=
XM_011528010.1:c.2312-1498_2312-1477delinsCGACGTTGCTGGCAGAGGAAAT	XP_011526312.1:n.2312-1498_2312-1477delinsCGACGTTGCTGGCAGAGGA...
XM_011528011.1:c.1938_1959delinsCGACGTTGCTGGCAGAGGAAAT	XP_011526313.1:p.Gly646=
XR_244074.2:n.2329_2350delinsCGACGTTGCTGGCAGAGGAAAT
XM_011528010.2:c.2312-1498_2312-1477delinsCGACGTTGCTGGCAGAGGAAAT	XP_011526312.1:n.2312-1498_2312-1477delinsCGACGTTGCTGGCAGAGGA...
XR_001753685.2:n.2653_2674delinsCGACGTTGCTGGCAGAGGAAAT
XR_001753686.2:n.2296_2317delinsCGACGTTGCTGGCAGAGGAAAT
NM_000527.5:c.2319_2340delinsCGACGTTGCTGGCAGAGGAAAT MANE Select	NP_000518.1:p.Gly773=
NM_001195798.2:c.2319_2340delinsCGACGTTGCTGGCAGAGGAAAT	NP_001182727.1:p.Gly773=
NM_001195799.2:c.2196_2217delinsCGACGTTGCTGGCAGAGGAAAT	NP_001182728.1:p.Gly732=
NM_001195800.2:c.1815_1836delinsCGACGTTGCTGGCAGAGGAAAT	NP_001182729.1:p.Gly605=
NM_001195803.2:c.1785_1806delinsCGACGTTGCTGGCAGAGGAAAT	NP_001182732.1:p.Gly595=