Canonical Allele Identifier: CA2322773298

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116179_11116183delinsGAAAA , CM000681.2:g.11116179_11116183delinsGAAAA	GRCh38
NC_000019.9:g.11226855_11226859delinsGAAAA , CM000681.1:g.11226855_11226859delinsGAAAA	GRCh37
NC_000019.8:g.11087855_11087859delinsGAAAA	NCBI36
NG_009060.1:g.31799_31803delinsGAAAA , LRG_274:g.31799_31803delinsGAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1930_1934delinsGAAAA	ENSP00000252444.6:p.Glu644=
ENST00000559340.2:c.1672_1676delinsGAAAA	ENSP00000453696.2:p.Glu558=
ENST00000560467.2:c.1552_1556delinsGAAAA	ENSP00000453513.2:p.Glu518=
ENST00000558518.6:c.1672_1676delinsGAAAA MANE Select	ENSP00000454071.1:p.Glu558=
ENST00000252444.9:c.1926_1930delinsGAAAA
ENST00000455727.6:c.1168_1172delinsGAAAA	ENSP00000397829.2:p.Glu390=
ENST00000535915.5:c.1549_1553delinsGAAAA	ENSP00000440520.1:p.Glu517=
ENST00000545707.5:c.1291_1295delinsGAAAA	ENSP00000437639.1:p.Glu431=
ENST00000557933.5:c.1672_1676delinsGAAAA	ENSP00000453557.1:p.Glu558=
ENST00000558013.5:c.1672_1676delinsGAAAA	ENSP00000453346.1:p.Glu558=
ENST00000558518.5:c.1672_1676delinsGAAAA	ENSP00000454071.1:p.Glu558=
ENST00000559340.1:c.393_397delinsGAAAA
NM_000527.4:c.1672_1676delinsGAAAA , LRG_274t1:c.1672_1676delinsGAAAA	NP_000518.1:p.Glu558=
NM_001195798.1:c.1672_1676delinsGAAAA	NP_001182727.1:p.Glu558=
NM_001195799.1:c.1549_1553delinsGAAAA	NP_001182728.1:p.Glu517=
NM_001195800.1:c.1168_1172delinsGAAAA	NP_001182729.1:p.Glu390=
NM_001195803.1:c.1291_1295delinsGAAAA	NP_001182732.1:p.Glu431=
XM_011528010.1:c.1672_1676delinsGAAAA	XP_011526312.1:p.Glu558=
XM_011528011.1:c.1291_1295delinsGAAAA	XP_011526313.1:p.Glu431=
XR_244074.2:n.1822_1826delinsGAAAA
XM_011528010.2:c.1672_1676delinsGAAAA	XP_011526312.1:p.Glu558=
XR_001753685.2:n.1789_1793delinsGAAAA
XR_001753686.2:n.1789_1793delinsGAAAA
NM_000527.5:c.1672_1676delinsGAAAA MANE Select	NP_000518.1:p.Glu558=
NM_001195798.2:c.1672_1676delinsGAAAA	NP_001182727.1:p.Glu558=
NM_001195799.2:c.1549_1553delinsGAAAA	NP_001182728.1:p.Glu517=
NM_001195800.2:c.1168_1172delinsGAAAA	NP_001182729.1:p.Glu390=
NM_001195803.2:c.1291_1295delinsGAAAA	NP_001182732.1:p.Glu431=