Canonical Allele Identifier: CA2322770747
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111582_11111583delinsTG , CM000681.2:g.11111582_11111583delinsTG GRCh38
NC_000019.9:g.11222258_11222259delinsTG , CM000681.1:g.11222258_11222259delinsTG GRCh37
NC_000019.8:g.11083258_11083259delinsTG NCBI36
NG_009060.1:g.27202_27203delinsTG , LRG_274:g.27202_27203delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1387_1388delinsTG ENSP00000252444.6:p.Cys463=
ENST00000559340.2:c.1129_1130delinsTG ENSP00000453696.2:p.Cys377=
ENST00000560467.2:c.1009_1010delinsTG ENSP00000453513.2:p.Cys337=
ENST00000558518.6:c.1129_1130delinsTG MANE Select ENSP00000454071.1:p.Cys377=
ENST00000252444.9:c.1383_1384delinsTG
ENST00000455727.6:c.625_626delinsTG ENSP00000397829.2:p.Cys209=
ENST00000535915.5:c.1006_1007delinsTG ENSP00000440520.1:p.Cys336=
ENST00000545707.5:c.748_749delinsTG ENSP00000437639.1:p.Cys250=
ENST00000557933.5:c.1129_1130delinsTG ENSP00000453557.1:p.Cys377=
ENST00000558013.5:c.1129_1130delinsTG ENSP00000453346.1:p.Cys377=
ENST00000558518.5:c.1129_1130delinsTG ENSP00000454071.1:p.Cys377=
ENST00000560173.1:n.128_129delinsTG
ENST00000560467.1:c.609_610delinsTG
NM_000527.4:c.1129_1130delinsTG , LRG_274t1:c.1129_1130delinsTG NP_000518.1:p.Cys377=
NM_001195798.1:c.1129_1130delinsTG NP_001182727.1:p.Cys377=
NM_001195799.1:c.1006_1007delinsTG NP_001182728.1:p.Cys336=
NM_001195800.1:c.625_626delinsTG NP_001182729.1:p.Cys209=
NM_001195803.1:c.748_749delinsTG NP_001182732.1:p.Cys250=
XM_011528010.1:c.1129_1130delinsTG XP_011526312.1:p.Cys377=
XM_011528011.1:c.748_749delinsTG XP_011526313.1:p.Cys250=
XR_244074.2:n.1279_1280delinsTG
XM_011528010.2:c.1129_1130delinsTG XP_011526312.1:p.Cys377=
XR_001753685.2:n.1246_1247delinsTG
XR_001753686.2:n.1246_1247delinsTG
NM_000527.5:c.1129_1130delinsTG MANE Select NP_000518.1:p.Cys377=
NM_001195798.2:c.1129_1130delinsTG NP_001182727.1:p.Cys377=
NM_001195799.2:c.1006_1007delinsTG NP_001182728.1:p.Cys336=
NM_001195800.2:c.625_626delinsTG NP_001182729.1:p.Cys209=
NM_001195803.2:c.748_749delinsTG NP_001182732.1:p.Cys250=