Canonical Allele Identifier: CA2322770490

Gene: LDLR

Linked Data

• dbSNP Id: rs2077369387

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111110_11111111insATG , CM000681.2:g.11111110_11111111insATG	GRCh38
NC_000019.9:g.11221786_11221787insATG , CM000681.1:g.11221786_11221787insATG	GRCh37
NC_000019.8:g.11082786_11082787insATG	NCBI36
NG_009060.1:g.26730_26731insATG , LRG_274:g.26730_26731insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1318+339_1318+340insATG	ENSP00000252444.6:n.1318+339_1318+340insATG
ENST00000559340.2:c.1060+339_1060+340insATG	ENSP00000453696.2:n.1060+339_1060+340insATG
ENST00000560467.2:c.941-404_941-403insATG	ENSP00000453513.2:n.941-404_941-403insATG
ENST00000558518.6:c.1060+339_1060+340insATG MANE Select	ENSP00000454071.1:n.1060+339_1060+340insATG
ENST00000252444.9:c.1314+339_1314+340insATG
ENST00000455727.6:c.556+339_556+340insATG	ENSP00000397829.2:n.556+339_556+340insATG
ENST00000535915.5:c.937+339_937+340insATG	ENSP00000440520.1:n.937+339_937+340insATG
ENST00000545707.5:c.679+339_679+340insATG	ENSP00000437639.1:n.679+339_679+340insATG
ENST00000557933.5:c.1060+339_1060+340insATG	ENSP00000453557.1:n.1060+339_1060+340insATG
ENST00000558013.5:c.1060+339_1060+340insATG	ENSP00000453346.1:n.1060+339_1060+340insATG
ENST00000558518.5:c.1060+339_1060+340insATG	ENSP00000454071.1:n.1060+339_1060+340insATG
ENST00000560173.1:n.59+339_59+340insATG
ENST00000560467.1:c.541-404_541-403insATG
NM_000527.4:c.1060+339_1060+340insATG , LRG_274t1:c.1060+339_1060+340insATG	NP_000518.1:n.1060+339_1060+340insATG
NM_001195798.1:c.1060+339_1060+340insATG	NP_001182727.1:n.1060+339_1060+340insATG
NM_001195799.1:c.937+339_937+340insATG	NP_001182728.1:n.937+339_937+340insATG
NM_001195800.1:c.556+339_556+340insATG	NP_001182729.1:n.556+339_556+340insATG
NM_001195803.1:c.679+339_679+340insATG	NP_001182732.1:n.679+339_679+340insATG
XM_011528010.1:c.1060+339_1060+340insATG	XP_011526312.1:n.1060+339_1060+340insATG
XM_011528011.1:c.679+339_679+340insATG	XP_011526313.1:n.679+339_679+340insATG
XR_244074.2:n.1210+339_1210+340insATG
XM_011528010.2:c.1060+339_1060+340insATG	XP_011526312.1:n.1060+339_1060+340insATG
XR_001753685.2:n.1177+339_1177+340insATG
XR_001753686.2:n.1177+339_1177+340insATG
NM_000527.5:c.1060+339_1060+340insATG MANE Select	NP_000518.1:n.1060+339_1060+340insATG
NM_001195798.2:c.1060+339_1060+340insATG	NP_001182727.1:n.1060+339_1060+340insATG
NM_001195799.2:c.937+339_937+340insATG	NP_001182728.1:n.937+339_937+340insATG
NM_001195800.2:c.556+339_556+340insATG	NP_001182729.1:n.556+339_556+340insATG
NM_001195803.2:c.679+339_679+340insATG	NP_001182732.1:n.679+339_679+340insATG