Canonical Allele Identifier: CA2322767454
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105423_11105424delinsTG , CM000681.2:g.11105423_11105424delinsTG GRCh38
NC_000019.9:g.11216099_11216100delinsTG , CM000681.1:g.11216099_11216100delinsTG GRCh37
NC_000019.8:g.11077099_11077100delinsTG NCBI36
NG_009060.1:g.21043_21044delinsTG , LRG_274:g.21043_21044delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.775_776delinsTG ENSP00000252444.6:p.Cys259=
ENST00000559340.2:c.517_518delinsTG ENSP00000453696.2:p.Cys173=
ENST00000560467.2:c.517_518delinsTG ENSP00000453513.2:p.Cys173=
ENST00000558518.6:c.517_518delinsTG MANE Select ENSP00000454071.1:p.Cys173=
ENST00000252444.9:c.771_772delinsTG
ENST00000455727.6:c.314-1969_314-1968delinsTG ENSP00000397829.2:n.314-1969_314-1968delinsTG
ENST00000535915.5:c.394_395delinsTG ENSP00000440520.1:p.Cys132=
ENST00000545707.5:c.314-1142_314-1141delinsTG ENSP00000437639.1:n.314-1142_314-1141delinsTG
ENST00000557933.5:c.517_518delinsTG ENSP00000453557.1:p.Cys173=
ENST00000558013.5:c.517_518delinsTG ENSP00000453346.1:p.Cys173=
ENST00000558518.5:c.517_518delinsTG ENSP00000454071.1:p.Cys173=
ENST00000560467.1:c.117_118delinsTG
NM_000527.4:c.517_518delinsTG , LRG_274t1:c.517_518delinsTG NP_000518.1:p.Cys173=
NM_001195798.1:c.517_518delinsTG NP_001182727.1:p.Cys173=
NM_001195799.1:c.394_395delinsTG NP_001182728.1:p.Cys132=
NM_001195800.1:c.314-1969_314-1968delinsTG NP_001182729.1:n.314-1969_314-1968delinsTG
NM_001195803.1:c.314-1142_314-1141delinsTG NP_001182732.1:n.314-1142_314-1141delinsTG
XM_011528010.1:c.517_518delinsTG XP_011526312.1:p.Cys173=
XM_011528011.1:c.314-1142_314-1141delinsTG XP_011526313.1:n.314-1142_314-1141delinsTG
XR_244074.2:n.667_668delinsTG
XM_011528010.2:c.517_518delinsTG XP_011526312.1:p.Cys173=
XR_001753685.2:n.634_635delinsTG
XR_001753686.2:n.634_635delinsTG
NM_000527.5:c.517_518delinsTG MANE Select NP_000518.1:p.Cys173=
NM_001195798.2:c.517_518delinsTG NP_001182727.1:p.Cys173=
NM_001195799.2:c.394_395delinsTG NP_001182728.1:p.Cys132=
NM_001195800.2:c.314-1969_314-1968delinsTG NP_001182729.1:n.314-1969_314-1968delinsTG
NM_001195803.2:c.314-1142_314-1141delinsTG NP_001182732.1:n.314-1142_314-1141delinsTG