Canonical Allele Identifier: CA2813590808

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110835_11110836insAACCAAACACACCCAA , CM000681.2:g.11110835_11110836insAACCAAACACACCCAA	GRCh38
NC_000019.9:g.11221511_11221512insAACCAAACACACCCAA , CM000681.1:g.11221511_11221512insAACCAAACACACCCAA	GRCh37
NC_000019.8:g.11082511_11082512insAACCAAACACACCCAA	NCBI36
NG_009060.1:g.26455_26456insAACCAAACACACCCAA , LRG_274:g.26455_26456insAACCAAACACACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1318+64_1318+65insAACCAAACACACCCAA	ENSP00000252444.6:n.1318+64_1318+65insAACCAAACACACCCAA
ENST00000559340.2:c.1060+64_1060+65insAACCAAACACACCCAA	ENSP00000453696.2:n.1060+64_1060+65insAACCAAACACACCCAA
ENST00000560467.2:c.941-679_941-678insAACCAAACACACCCAA	ENSP00000453513.2:n.941-679_941-678insAACCAAACACACCCAA
ENST00000558518.6:c.1060+64_1060+65insAACCAAACACACCCAA MANE Select	ENSP00000454071.1:n.1060+64_1060+65insAACCAAACACACCCAA
ENST00000252444.9:c.1314+64_1314+65insAACCAAACACACCCAA
ENST00000455727.6:c.556+64_556+65insAACCAAACACACCCAA	ENSP00000397829.2:n.556+64_556+65insAACCAAACACACCCAA
ENST00000535915.5:c.937+64_937+65insAACCAAACACACCCAA	ENSP00000440520.1:n.937+64_937+65insAACCAAACACACCCAA
ENST00000545707.5:c.679+64_679+65insAACCAAACACACCCAA	ENSP00000437639.1:n.679+64_679+65insAACCAAACACACCCAA
ENST00000557933.5:c.1060+64_1060+65insAACCAAACACACCCAA	ENSP00000453557.1:n.1060+64_1060+65insAACCAAACACACCCAA
ENST00000558013.5:c.1060+64_1060+65insAACCAAACACACCCAA	ENSP00000453346.1:n.1060+64_1060+65insAACCAAACACACCCAA
ENST00000558518.5:c.1060+64_1060+65insAACCAAACACACCCAA	ENSP00000454071.1:n.1060+64_1060+65insAACCAAACACACCCAA
ENST00000560173.1:n.59+64_59+65insAACCAAACACACCCAA
ENST00000560467.1:c.541-679_541-678insAACCAAACACACCCAA
NM_000527.4:c.1060+64_1060+65insAACCAAACACACCCAA , LRG_274t1:c.1060+64_1060+65insAACCAAACACACCCAA	NP_000518.1:n.1060+64_1060+65insAACCAAACACACCCAA
NM_001195798.1:c.1060+64_1060+65insAACCAAACACACCCAA	NP_001182727.1:n.1060+64_1060+65insAACCAAACACACCCAA
NM_001195799.1:c.937+64_937+65insAACCAAACACACCCAA	NP_001182728.1:n.937+64_937+65insAACCAAACACACCCAA
NM_001195800.1:c.556+64_556+65insAACCAAACACACCCAA	NP_001182729.1:n.556+64_556+65insAACCAAACACACCCAA
NM_001195803.1:c.679+64_679+65insAACCAAACACACCCAA	NP_001182732.1:n.679+64_679+65insAACCAAACACACCCAA
XM_011528010.1:c.1060+64_1060+65insAACCAAACACACCCAA	XP_011526312.1:n.1060+64_1060+65insAACCAAACACACCCAA
XM_011528011.1:c.679+64_679+65insAACCAAACACACCCAA	XP_011526313.1:n.679+64_679+65insAACCAAACACACCCAA
XR_244074.2:n.1210+64_1210+65insAACCAAACACACCCAA
XM_011528010.2:c.1060+64_1060+65insAACCAAACACACCCAA	XP_011526312.1:n.1060+64_1060+65insAACCAAACACACCCAA
XR_001753685.2:n.1177+64_1177+65insAACCAAACACACCCAA
XR_001753686.2:n.1177+64_1177+65insAACCAAACACACCCAA
NM_000527.5:c.1060+64_1060+65insAACCAAACACACCCAA MANE Select	NP_000518.1:n.1060+64_1060+65insAACCAAACACACCCAA
NM_001195798.2:c.1060+64_1060+65insAACCAAACACACCCAA	NP_001182727.1:n.1060+64_1060+65insAACCAAACACACCCAA
NM_001195799.2:c.937+64_937+65insAACCAAACACACCCAA	NP_001182728.1:n.937+64_937+65insAACCAAACACACCCAA
NM_001195800.2:c.556+64_556+65insAACCAAACACACCCAA	NP_001182729.1:n.556+64_556+65insAACCAAACACACCCAA
NM_001195803.2:c.679+64_679+65insAACCAAACACACCCAA	NP_001182732.1:n.679+64_679+65insAACCAAACACACCCAA