Canonical Allele Identifier: CA2322771678

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113276_11113277delinsAG , CM000681.2:g.11113276_11113277delinsAG	GRCh38
NC_000019.9:g.11223952_11223953delinsAG , CM000681.1:g.11223952_11223953delinsAG	GRCh37
NC_000019.8:g.11084952_11084953delinsAG	NCBI36
NG_009060.1:g.28896_28897delinsAG , LRG_274:g.28896_28897delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1445-2_1445-1delinsAG	ENSP00000252444.6:n.1445-2_1445-1delinsAG
ENST00000559340.2:c.1187-2_1187-1delinsAG	ENSP00000453696.2:n.1187-2_1187-1delinsAG
ENST00000560467.2:c.1067-2_1067-1delinsAG	ENSP00000453513.2:n.1067-2_1067-1delinsAG
ENST00000558518.6:c.1187-2_1187-1delinsAG MANE Select	ENSP00000454071.1:n.1187-2_1187-1delinsAG
ENST00000252444.9:c.1441-2_1441-1delinsAG
ENST00000455727.6:c.683-2_683-1delinsAG	ENSP00000397829.2:n.683-2_683-1delinsAG
ENST00000535915.5:c.1064-2_1064-1delinsAG	ENSP00000440520.1:n.1064-2_1064-1delinsAG
ENST00000545707.5:c.806-2_806-1delinsAG	ENSP00000437639.1:n.806-2_806-1delinsAG
ENST00000557933.5:c.1187-2_1187-1delinsAG	ENSP00000453557.1:n.1187-2_1187-1delinsAG
ENST00000558013.5:c.1187-2_1187-1delinsAG	ENSP00000453346.1:n.1187-2_1187-1delinsAG
ENST00000558518.5:c.1187-2_1187-1delinsAG	ENSP00000454071.1:n.1187-2_1187-1delinsAG
ENST00000560173.1:n.186-2_186-1delinsAG
ENST00000560467.1:c.667-2_667-1delinsAG
NM_000527.4:c.1187-2_1187-1delinsAG , LRG_274t1:c.1187-2_1187-1delinsAG	NP_000518.1:n.1187-2_1187-1delinsAG
NM_001195798.1:c.1187-2_1187-1delinsAG	NP_001182727.1:n.1187-2_1187-1delinsAG
NM_001195799.1:c.1064-2_1064-1delinsAG	NP_001182728.1:n.1064-2_1064-1delinsAG
NM_001195800.1:c.683-2_683-1delinsAG	NP_001182729.1:n.683-2_683-1delinsAG
NM_001195803.1:c.806-2_806-1delinsAG	NP_001182732.1:n.806-2_806-1delinsAG
XM_011528010.1:c.1187-2_1187-1delinsAG	XP_011526312.1:n.1187-2_1187-1delinsAG
XM_011528011.1:c.806-2_806-1delinsAG	XP_011526313.1:n.806-2_806-1delinsAG
XR_244074.2:n.1337-2_1337-1delinsAG
XM_011528010.2:c.1187-2_1187-1delinsAG	XP_011526312.1:n.1187-2_1187-1delinsAG
XR_001753685.2:n.1304-2_1304-1delinsAG
XR_001753686.2:n.1304-2_1304-1delinsAG
NM_000527.5:c.1187-2_1187-1delinsAG MANE Select	NP_000518.1:n.1187-2_1187-1delinsAG
NM_001195798.2:c.1187-2_1187-1delinsAG	NP_001182727.1:n.1187-2_1187-1delinsAG
NM_001195799.2:c.1064-2_1064-1delinsAG	NP_001182728.1:n.1064-2_1064-1delinsAG
NM_001195800.2:c.683-2_683-1delinsAG	NP_001182729.1:n.683-2_683-1delinsAG
NM_001195803.2:c.806-2_806-1delinsAG	NP_001182732.1:n.806-2_806-1delinsAG