Canonical Allele Identifier: CA2582474640

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113621-A-ATC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113621_11113622insTC , CM000681.2:g.11113621_11113622insTC	GRCh38
NC_000019.9:g.11224297_11224298insTC , CM000681.1:g.11224297_11224298insTC	GRCh37
NC_000019.8:g.11085297_11085298insTC	NCBI36
NG_009060.1:g.29241_29242insTC , LRG_274:g.29241_29242insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1703_1704insTC	ENSP00000252444.6:p.Trp569ProfsTer25
ENST00000559340.2:c.1445_1446insTC	ENSP00000453696.2:p.Trp483ProfsTer25
ENST00000560467.2:c.1325_1326insTC	ENSP00000453513.2:p.Trp443ProfsTer25
ENST00000558518.6:c.1445_1446insTC MANE Select	ENSP00000454071.1:p.Trp483ProfsTer25
ENST00000252444.9:c.1699_1700insTC
ENST00000455727.6:c.941_942insTC	ENSP00000397829.2:p.Trp315ProfsTer25
ENST00000535915.5:c.1322_1323insTC	ENSP00000440520.1:p.Trp442ProfsTer25
ENST00000545707.5:c.1064_1065insTC	ENSP00000437639.1:p.Trp356ProfsTer25
ENST00000557933.5:c.1445_1446insTC	ENSP00000453557.1:p.Trp483ProfsTer25
ENST00000558013.5:c.1445_1446insTC	ENSP00000453346.1:p.Trp483ProfsTer25
ENST00000558518.5:c.1445_1446insTC	ENSP00000454071.1:p.Trp483ProfsTer25
ENST00000559340.1:c.166_167insTC
ENST00000560467.1:c.925_926insTC
NM_000527.4:c.1445_1446insTC , LRG_274t1:c.1445_1446insTC	NP_000518.1:p.Trp483ProfsTer25
NM_001195798.1:c.1445_1446insTC	NP_001182727.1:p.Trp483ProfsTer25
NM_001195799.1:c.1322_1323insTC	NP_001182728.1:p.Trp442ProfsTer25
NM_001195800.1:c.941_942insTC	NP_001182729.1:p.Trp315ProfsTer25
NM_001195803.1:c.1064_1065insTC	NP_001182732.1:p.Trp356ProfsTer25
XM_011528010.1:c.1445_1446insTC	XP_011526312.1:p.Trp483ProfsTer25
XM_011528011.1:c.1064_1065insTC	XP_011526313.1:p.Trp356ProfsTer25
XR_244074.2:n.1595_1596insTC
XM_011528010.2:c.1445_1446insTC	XP_011526312.1:p.Trp483ProfsTer25
XR_001753685.2:n.1562_1563insTC
XR_001753686.2:n.1562_1563insTC
NM_000527.5:c.1445_1446insTC MANE Select	NP_000518.1:p.Trp483ProfsTer25
NM_001195798.2:c.1445_1446insTC	NP_001182727.1:p.Trp483ProfsTer25
NM_001195799.2:c.1322_1323insTC	NP_001182728.1:p.Trp442ProfsTer25
NM_001195800.2:c.941_942insTC	NP_001182729.1:p.Trp315ProfsTer25
NM_001195803.2:c.1064_1065insTC	NP_001182732.1:p.Trp356ProfsTer25