Canonical Allele Identifier: CA2322764762
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100326_11100327delinsTG , CM000681.2:g.11100326_11100327delinsTG GRCh38
NC_000019.9:g.11211002_11211003delinsTG , CM000681.1:g.11211002_11211003delinsTG GRCh37
NC_000019.8:g.11072002_11072003delinsTG NCBI36
NG_009060.1:g.15946_15947delinsTG , LRG_274:g.15946_15947delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.429_430delinsTG ENSP00000252444.6:p.Asp143=
ENST00000559340.2:c.171_172delinsTG ENSP00000453696.2:p.Asp57=
ENST00000560467.2:c.171_172delinsTG ENSP00000453513.2:p.Asp57=
ENST00000558518.6:c.171_172delinsTG MANE Select ENSP00000454071.1:p.Asp57=
ENST00000252444.9:c.425_426delinsTG
ENST00000455727.6:c.171_172delinsTG ENSP00000397829.2:p.Asp57=
ENST00000535915.5:c.171_172delinsTG ENSP00000440520.1:p.Asp57=
ENST00000545707.5:c.171_172delinsTG ENSP00000437639.1:p.Asp57=
ENST00000557933.5:c.171_172delinsTG ENSP00000453557.1:p.Asp57=
ENST00000557958.1:n.257_258delinsTG
ENST00000558013.5:c.171_172delinsTG ENSP00000453346.1:p.Asp57=
ENST00000558518.5:c.171_172delinsTG ENSP00000454071.1:p.Asp57=
ENST00000560502.5:n.257_258delinsTG
NM_000527.4:c.171_172delinsTG , LRG_274t1:c.171_172delinsTG NP_000518.1:p.Asp57=
NM_001195798.1:c.171_172delinsTG NP_001182727.1:p.Asp57=
NM_001195799.1:c.171_172delinsTG NP_001182728.1:p.Asp57=
NM_001195800.1:c.171_172delinsTG NP_001182729.1:p.Asp57=
NM_001195803.1:c.171_172delinsTG NP_001182732.1:p.Asp57=
XM_011528010.1:c.171_172delinsTG XP_011526312.1:p.Asp57=
XM_011528011.1:c.171_172delinsTG XP_011526313.1:p.Asp57=
XR_244074.2:n.321_322delinsTG
XM_011528010.2:c.171_172delinsTG XP_011526312.1:p.Asp57=
XR_001753685.2:n.288_289delinsTG
XR_001753686.2:n.288_289delinsTG
NM_000527.5:c.171_172delinsTG MANE Select NP_000518.1:p.Asp57=
NM_001195798.2:c.171_172delinsTG NP_001182727.1:p.Asp57=
NM_001195799.2:c.171_172delinsTG NP_001182728.1:p.Asp57=
NM_001195800.2:c.171_172delinsTG NP_001182729.1:p.Asp57=
NM_001195803.2:c.171_172delinsTG NP_001182732.1:p.Asp57=