Canonical Allele Identifier: CA2825002701
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3069245
ClinVar RCV Id: RCV004007789

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123263_11123265delinsTGG , CM000681.2:g.11123263_11123265delinsTGG GRCh38
NC_000019.9:g.11233939_11233941delinsTGG , CM000681.1:g.11233939_11233941delinsTGG GRCh37
NC_000019.8:g.11094939_11094941delinsTGG NCBI36
NG_009060.1:g.38883_38885delinsTGG , LRG_274:g.38883_38885delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2488_2490delinsTGG ENSP00000252444.6:p.Arg830Trp
ENST00000559340.2:c.*299_*301delinsTGG ENSP00000453696.2:n.*299_*301delinsTGG
ENST00000560467.2:c.2110_2112delinsTGG ENSP00000453513.2:p.Arg704Trp
ENST00000558518.6:c.2230_2232delinsTGG MANE Select ENSP00000454071.1:p.Arg744Trp
ENST00000252444.9:c.2484_2486delinsTGG
ENST00000455727.6:c.1726_1728delinsTGG ENSP00000397829.2:p.Arg576Trp
ENST00000535915.5:c.2107_2109delinsTGG ENSP00000440520.1:p.Arg703Trp
ENST00000545707.5:c.1696_1698delinsTGG ENSP00000437639.1:p.Arg566Trp
ENST00000557933.5:c.2230_2232delinsTGG ENSP00000453557.1:p.Arg744Trp
ENST00000558013.5:c.2230_2232delinsTGG ENSP00000453346.1:p.Arg744Trp
ENST00000558518.5:c.2230_2232delinsTGG ENSP00000454071.1:p.Arg744Trp
NM_000527.4:c.2230_2232delinsTGG , LRG_274t1:c.2230_2232delinsTGG NP_000518.1:p.Arg744Trp
NM_001195798.1:c.2230_2232delinsTGG NP_001182727.1:p.Arg744Trp
NM_001195799.1:c.2107_2109delinsTGG NP_001182728.1:p.Arg703Trp
NM_001195800.1:c.1726_1728delinsTGG NP_001182729.1:p.Arg576Trp
NM_001195803.1:c.1696_1698delinsTGG NP_001182732.1:p.Arg566Trp
XM_011528010.1:c.2230_2232delinsTGG XP_011526312.1:p.Arg744Trp
XM_011528011.1:c.1849_1851delinsTGG XP_011526313.1:p.Arg617Trp
XR_244074.2:n.2240_2242delinsTGG
XM_011528010.2:c.2230_2232delinsTGG XP_011526312.1:p.Arg744Trp
XR_001753685.2:n.2564_2566delinsTGG
XR_001753686.2:n.2207_2209delinsTGG
NM_000527.5:c.2230_2232delinsTGG MANE Select NP_000518.1:p.Arg744Trp
NM_001195798.2:c.2230_2232delinsTGG NP_001182727.1:p.Arg744Trp
NM_001195799.2:c.2107_2109delinsTGG NP_001182728.1:p.Arg703Trp
NM_001195800.2:c.1726_1728delinsTGG NP_001182729.1:p.Arg576Trp
NM_001195803.2:c.1696_1698delinsTGG NP_001182732.1:p.Arg566Trp