Canonical Allele Identifier: CA2322768658
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107509_11107514delinsAGTGCG , CM000681.2:g.11107509_11107514delinsAGTGCG GRCh38
NC_000019.9:g.11218185_11218190delinsAGTGCG , CM000681.1:g.11218185_11218190delinsAGTGCG GRCh37
NC_000019.8:g.11079185_11079190delinsAGTGCG NCBI36
NG_009060.1:g.23129_23134delinsAGTGCG , LRG_274:g.23129_23134delinsAGTGCG

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1193_1198delinsAGTGCG ENSP00000252444.6:p.Glu398=
ENST00000559340.2:c.935_940delinsAGTGCG ENSP00000453696.2:p.Glu312=
ENST00000560467.2:c.935_940delinsAGTGCG ENSP00000453513.2:p.Glu312=
ENST00000558518.6:c.935_940delinsAGTGCG MANE Select ENSP00000454071.1:p.Glu312=
ENST00000252444.9:c.1189_1194delinsAGTGCG
ENST00000455727.6:c.431_436delinsAGTGCG ENSP00000397829.2:p.Glu144=
ENST00000535915.5:c.812_817delinsAGTGCG ENSP00000440520.1:p.Glu271=
ENST00000545707.5:c.554_559delinsAGTGCG ENSP00000437639.1:p.Glu185=
ENST00000557933.5:c.935_940delinsAGTGCG ENSP00000453557.1:p.Glu312=
ENST00000558013.5:c.935_940delinsAGTGCG ENSP00000453346.1:p.Glu312=
ENST00000558518.5:c.935_940delinsAGTGCG ENSP00000454071.1:p.Glu312=
ENST00000558528.1:n.450_455delinsAGTGCG
ENST00000560467.1:c.535_540delinsAGTGCG
NM_000527.4:c.935_940delinsAGTGCG , LRG_274t1:c.935_940delinsAGTGCG NP_000518.1:p.Glu312=
NM_001195798.1:c.935_940delinsAGTGCG NP_001182727.1:p.Glu312=
NM_001195799.1:c.812_817delinsAGTGCG NP_001182728.1:p.Glu271=
NM_001195800.1:c.431_436delinsAGTGCG NP_001182729.1:p.Glu144=
NM_001195803.1:c.554_559delinsAGTGCG NP_001182732.1:p.Glu185=
XM_011528010.1:c.935_940delinsAGTGCG XP_011526312.1:p.Glu312=
XM_011528011.1:c.554_559delinsAGTGCG XP_011526313.1:p.Glu185=
XR_244074.2:n.1085_1090delinsAGTGCG
XM_011528010.2:c.935_940delinsAGTGCG XP_011526312.1:p.Glu312=
XR_001753685.2:n.1052_1057delinsAGTGCG
XR_001753686.2:n.1052_1057delinsAGTGCG
NM_000527.5:c.935_940delinsAGTGCG MANE Select NP_000518.1:p.Glu312=
NM_001195798.2:c.935_940delinsAGTGCG NP_001182727.1:p.Glu312=
NM_001195799.2:c.812_817delinsAGTGCG NP_001182728.1:p.Glu271=
NM_001195800.2:c.431_436delinsAGTGCG NP_001182729.1:p.Glu144=
NM_001195803.2:c.554_559delinsAGTGCG NP_001182732.1:p.Glu185=