Canonical Allele Identifier: CA2322767541
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105522_11105523delinsAG , CM000681.2:g.11105522_11105523delinsAG GRCh38
NC_000019.9:g.11216198_11216199delinsAG , CM000681.1:g.11216198_11216199delinsAG GRCh37
NC_000019.8:g.11077198_11077199delinsAG NCBI36
NG_009060.1:g.21142_21143delinsAG , LRG_274:g.21142_21143delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.874_875delinsAG ENSP00000252444.6:p.Ser292=
ENST00000559340.2:c.616_617delinsAG ENSP00000453696.2:p.Ser206=
ENST00000560467.2:c.616_617delinsAG ENSP00000453513.2:p.Ser206=
ENST00000558518.6:c.616_617delinsAG MANE Select ENSP00000454071.1:p.Ser206=
ENST00000252444.9:c.870_871delinsAG
ENST00000455727.6:c.314-1870_314-1869delinsAG ENSP00000397829.2:n.314-1870_314-1869delinsAG
ENST00000535915.5:c.493_494delinsAG ENSP00000440520.1:p.Ser165=
ENST00000545707.5:c.314-1043_314-1042delinsAG ENSP00000437639.1:n.314-1043_314-1042delinsAG
ENST00000557933.5:c.616_617delinsAG ENSP00000453557.1:p.Ser206=
ENST00000558013.5:c.616_617delinsAG ENSP00000453346.1:p.Ser206=
ENST00000558518.5:c.616_617delinsAG ENSP00000454071.1:p.Ser206=
ENST00000560467.1:c.216_217delinsAG
NM_000527.4:c.616_617delinsAG , LRG_274t1:c.616_617delinsAG NP_000518.1:p.Ser206=
NM_001195798.1:c.616_617delinsAG NP_001182727.1:p.Ser206=
NM_001195799.1:c.493_494delinsAG NP_001182728.1:p.Ser165=
NM_001195800.1:c.314-1870_314-1869delinsAG NP_001182729.1:n.314-1870_314-1869delinsAG
NM_001195803.1:c.314-1043_314-1042delinsAG NP_001182732.1:n.314-1043_314-1042delinsAG
XM_011528010.1:c.616_617delinsAG XP_011526312.1:p.Ser206=
XM_011528011.1:c.314-1043_314-1042delinsAG XP_011526313.1:n.314-1043_314-1042delinsAG
XR_244074.2:n.766_767delinsAG
XM_011528010.2:c.616_617delinsAG XP_011526312.1:p.Ser206=
XR_001753685.2:n.733_734delinsAG
XR_001753686.2:n.733_734delinsAG
NM_000527.5:c.616_617delinsAG MANE Select NP_000518.1:p.Ser206=
NM_001195798.2:c.616_617delinsAG NP_001182727.1:p.Ser206=
NM_001195799.2:c.493_494delinsAG NP_001182728.1:p.Ser165=
NM_001195800.2:c.314-1870_314-1869delinsAG NP_001182729.1:n.314-1870_314-1869delinsAG
NM_001195803.2:c.314-1043_314-1042delinsAG NP_001182732.1:n.314-1043_314-1042delinsAG