Canonical Allele Identifier: CA2497030183
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111583_11111584delinsCT , CM000681.2:g.11111583_11111584delinsCT GRCh38
NC_000019.9:g.11222259_11222260delinsCT , CM000681.1:g.11222259_11222260delinsCT GRCh37
NC_000019.8:g.11083259_11083260delinsCT NCBI36
NG_009060.1:g.27203_27204delinsCT , LRG_274:g.27203_27204delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1388_1389delinsCT ENSP00000252444.6:p.Cys463Ser
ENST00000559340.2:c.1130_1131delinsCT ENSP00000453696.2:p.Cys377Ser
ENST00000560467.2:c.1010_1011delinsCT ENSP00000453513.2:p.Cys337Ser
ENST00000558518.6:c.1130_1131delinsCT MANE Select ENSP00000454071.1:p.Cys377Ser
ENST00000252444.9:c.1384_1385delinsCT
ENST00000455727.6:c.626_627delinsCT ENSP00000397829.2:p.Cys209Ser
ENST00000535915.5:c.1007_1008delinsCT ENSP00000440520.1:p.Cys336Ser
ENST00000545707.5:c.749_750delinsCT ENSP00000437639.1:p.Cys250Ser
ENST00000557933.5:c.1130_1131delinsCT ENSP00000453557.1:p.Cys377Ser
ENST00000558013.5:c.1130_1131delinsCT ENSP00000453346.1:p.Cys377Ser
ENST00000558518.5:c.1130_1131delinsCT ENSP00000454071.1:p.Cys377Ser
ENST00000560173.1:n.129_130delinsCT
ENST00000560467.1:c.610_611delinsCT
NM_000527.4:c.1130_1131delinsCT , LRG_274t1:c.1130_1131delinsCT NP_000518.1:p.Cys377Ser
NM_001195798.1:c.1130_1131delinsCT NP_001182727.1:p.Cys377Ser
NM_001195799.1:c.1007_1008delinsCT NP_001182728.1:p.Cys336Ser
NM_001195800.1:c.626_627delinsCT NP_001182729.1:p.Cys209Ser
NM_001195803.1:c.749_750delinsCT NP_001182732.1:p.Cys250Ser
XM_011528010.1:c.1130_1131delinsCT XP_011526312.1:p.Cys377Ser
XM_011528011.1:c.749_750delinsCT XP_011526313.1:p.Cys250Ser
XR_244074.2:n.1280_1281delinsCT
XM_011528010.2:c.1130_1131delinsCT XP_011526312.1:p.Cys377Ser
XR_001753685.2:n.1247_1248delinsCT
XR_001753686.2:n.1247_1248delinsCT
NM_000527.5:c.1130_1131delinsCT MANE Select NP_000518.1:p.Cys377Ser
NM_001195798.2:c.1130_1131delinsCT NP_001182727.1:p.Cys377Ser
NM_001195799.2:c.1007_1008delinsCT NP_001182728.1:p.Cys336Ser
NM_001195800.2:c.626_627delinsCT NP_001182729.1:p.Cys209Ser
NM_001195803.2:c.749_750delinsCT NP_001182732.1:p.Cys250Ser