Canonical Allele Identifier: CA2582474561

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113160-TGGGTGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113161_11113167del , CM000681.2:g.11113161_11113167del	GRCh38
NC_000019.9:g.11223837_11223843del , CM000681.1:g.11223837_11223843del	GRCh37
NC_000019.8:g.11084837_11084843del	NCBI36
NG_009060.1:g.28781_28787del , LRG_274:g.28781_28787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1445-117_1445-111del	ENSP00000252444.6:n.1445-117_1445-111del
ENST00000559340.2:c.1187-117_1187-111del	ENSP00000453696.2:n.1187-117_1187-111del
ENST00000560467.2:c.1067-117_1067-111del	ENSP00000453513.2:n.1067-117_1067-111del
ENST00000558518.6:c.1187-117_1187-111del MANE Select	ENSP00000454071.1:n.1187-117_1187-111del
ENST00000252444.9:c.1441-117_1441-111del
ENST00000455727.6:c.683-117_683-111del	ENSP00000397829.2:n.683-117_683-111del
ENST00000535915.5:c.1064-117_1064-111del	ENSP00000440520.1:n.1064-117_1064-111del
ENST00000545707.5:c.806-117_806-111del	ENSP00000437639.1:n.806-117_806-111del
ENST00000557933.5:c.1187-117_1187-111del	ENSP00000453557.1:n.1187-117_1187-111del
ENST00000558013.5:c.1187-117_1187-111del	ENSP00000453346.1:n.1187-117_1187-111del
ENST00000558518.5:c.1187-117_1187-111del	ENSP00000454071.1:n.1187-117_1187-111del
ENST00000560173.1:n.186-117_186-111del
ENST00000560467.1:c.667-117_667-111del
NM_000527.4:c.1187-117_1187-111del , LRG_274t1:c.1187-117_1187-111del	NP_000518.1:n.1187-117_1187-111del
NM_001195798.1:c.1187-117_1187-111del	NP_001182727.1:n.1187-117_1187-111del
NM_001195799.1:c.1064-117_1064-111del	NP_001182728.1:n.1064-117_1064-111del
NM_001195800.1:c.683-117_683-111del	NP_001182729.1:n.683-117_683-111del
NM_001195803.1:c.806-117_806-111del	NP_001182732.1:n.806-117_806-111del
XM_011528010.1:c.1187-117_1187-111del	XP_011526312.1:n.1187-117_1187-111del
XM_011528011.1:c.806-117_806-111del	XP_011526313.1:n.806-117_806-111del
XR_244074.2:n.1337-117_1337-111del
XM_011528010.2:c.1187-117_1187-111del	XP_011526312.1:n.1187-117_1187-111del
XR_001753685.2:n.1304-117_1304-111del
XR_001753686.2:n.1304-117_1304-111del
NM_000527.5:c.1187-117_1187-111del MANE Select	NP_000518.1:n.1187-117_1187-111del
NM_001195798.2:c.1187-117_1187-111del	NP_001182727.1:n.1187-117_1187-111del
NM_001195799.2:c.1064-117_1064-111del	NP_001182728.1:n.1064-117_1064-111del
NM_001195800.2:c.683-117_683-111del	NP_001182729.1:n.683-117_683-111del
NM_001195803.2:c.806-117_806-111del	NP_001182732.1:n.806-117_806-111del