Canonical Allele Identifier: CA2322771918

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113589_11113590delinsAG , CM000681.2:g.11113589_11113590delinsAG	GRCh38
NC_000019.9:g.11224265_11224266delinsAG , CM000681.1:g.11224265_11224266delinsAG	GRCh37
NC_000019.8:g.11085265_11085266delinsAG	NCBI36
NG_009060.1:g.29209_29210delinsAG , LRG_274:g.29209_29210delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1671_1672delinsAG	ENSP00000252444.6:p.Arg557=
ENST00000559340.2:c.1413_1414delinsAG	ENSP00000453696.2:p.Arg471=
ENST00000560467.2:c.1293_1294delinsAG	ENSP00000453513.2:p.Arg431=
ENST00000558518.6:c.1413_1414delinsAG MANE Select	ENSP00000454071.1:p.Arg471=
ENST00000252444.9:c.1667_1668delinsAG
ENST00000455727.6:c.909_910delinsAG	ENSP00000397829.2:p.Arg303=
ENST00000535915.5:c.1290_1291delinsAG	ENSP00000440520.1:p.Arg430=
ENST00000545707.5:c.1032_1033delinsAG	ENSP00000437639.1:p.Arg344=
ENST00000557933.5:c.1413_1414delinsAG	ENSP00000453557.1:p.Arg471=
ENST00000558013.5:c.1413_1414delinsAG	ENSP00000453346.1:p.Arg471=
ENST00000558518.5:c.1413_1414delinsAG	ENSP00000454071.1:p.Arg471=
ENST00000559340.1:c.134_135delinsAG
ENST00000560467.1:c.893_894delinsAG
NM_000527.4:c.1413_1414delinsAG , LRG_274t1:c.1413_1414delinsAG	NP_000518.1:p.Arg471=
NM_001195798.1:c.1413_1414delinsAG	NP_001182727.1:p.Arg471=
NM_001195799.1:c.1290_1291delinsAG	NP_001182728.1:p.Arg430=
NM_001195800.1:c.909_910delinsAG	NP_001182729.1:p.Arg303=
NM_001195803.1:c.1032_1033delinsAG	NP_001182732.1:p.Arg344=
XM_011528010.1:c.1413_1414delinsAG	XP_011526312.1:p.Arg471=
XM_011528011.1:c.1032_1033delinsAG	XP_011526313.1:p.Arg344=
XR_244074.2:n.1563_1564delinsAG
XM_011528010.2:c.1413_1414delinsAG	XP_011526312.1:p.Arg471=
XR_001753685.2:n.1530_1531delinsAG
XR_001753686.2:n.1530_1531delinsAG
NM_000527.5:c.1413_1414delinsAG MANE Select	NP_000518.1:p.Arg471=
NM_001195798.2:c.1413_1414delinsAG	NP_001182727.1:p.Arg471=
NM_001195799.2:c.1290_1291delinsAG	NP_001182728.1:p.Arg430=
NM_001195800.2:c.909_910delinsAG	NP_001182729.1:p.Arg303=
NM_001195803.2:c.1032_1033delinsAG	NP_001182732.1:p.Arg344=