Canonical Allele Identifier: CA2582474196

Gene: LDLR

Linked Data

• gnomAD v4: 19-11110662-A-ATGCTTGGACAACAACGGCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110665_11110685dup , CM000681.2:g.11110665_11110685dup	GRCh38
NC_000019.9:g.11221341_11221361dup , CM000681.1:g.11221341_11221361dup	GRCh37
NC_000019.8:g.11082341_11082361dup	NCBI36
NG_009060.1:g.26285_26305dup , LRG_274:g.26285_26305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1212_1232dup	ENSP00000252444.6:p.Cys411_Ser412insLeuAspAsnAsnGlyGlyCys
ENST00000559340.2:c.954_974dup	ENSP00000453696.2:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
ENST00000560467.2:c.941-849_941-829dup	ENSP00000453513.2:n.941-849_941-829dup
ENST00000558518.6:c.954_974dup MANE Select	ENSP00000454071.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
ENST00000252444.9:c.1208_1228dup
ENST00000455727.6:c.450_470dup	ENSP00000397829.2:p.Cys157_Ser158insLeuAspAsnAsnGlyGlyCys
ENST00000535915.5:c.831_851dup	ENSP00000440520.1:p.Cys284_Ser285insLeuAspAsnAsnGlyGlyCys
ENST00000545707.5:c.573_593dup	ENSP00000437639.1:p.Cys198_Ser199insLeuAspAsnAsnGlyGlyCys
ENST00000557933.5:c.954_974dup	ENSP00000453557.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
ENST00000558013.5:c.954_974dup	ENSP00000453346.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
ENST00000558518.5:c.954_974dup	ENSP00000454071.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
ENST00000560467.1:c.541-849_541-829dup
NM_000527.4:c.954_974dup , LRG_274t1:c.954_974dup	NP_000518.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
NM_001195798.1:c.954_974dup	NP_001182727.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
NM_001195799.1:c.831_851dup	NP_001182728.1:p.Cys284_Ser285insLeuAspAsnAsnGlyGlyCys
NM_001195800.1:c.450_470dup	NP_001182729.1:p.Cys157_Ser158insLeuAspAsnAsnGlyGlyCys
NM_001195803.1:c.573_593dup	NP_001182732.1:p.Cys198_Ser199insLeuAspAsnAsnGlyGlyCys
XM_011528010.1:c.954_974dup	XP_011526312.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
XM_011528011.1:c.573_593dup	XP_011526313.1:p.Cys198_Ser199insLeuAspAsnAsnGlyGlyCys
XR_244074.2:n.1104_1124dup
XM_011528010.2:c.954_974dup	XP_011526312.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
XR_001753685.2:n.1071_1091dup
XR_001753686.2:n.1071_1091dup
NM_000527.5:c.954_974dup MANE Select	NP_000518.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
NM_001195798.2:c.954_974dup	NP_001182727.1:p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys
NM_001195799.2:c.831_851dup	NP_001182728.1:p.Cys284_Ser285insLeuAspAsnAsnGlyGlyCys
NM_001195800.2:c.450_470dup	NP_001182729.1:p.Cys157_Ser158insLeuAspAsnAsnGlyGlyCys
NM_001195803.2:c.573_593dup	NP_001182732.1:p.Cys198_Ser199insLeuAspAsnAsnGlyGlyCys