Canonical Allele Identifier: CA2322767507
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105484_11105485delinsAC , CM000681.2:g.11105484_11105485delinsAC GRCh38
NC_000019.9:g.11216160_11216161delinsAC , CM000681.1:g.11216160_11216161delinsAC GRCh37
NC_000019.8:g.11077160_11077161delinsAC NCBI36
NG_009060.1:g.21104_21105delinsAC , LRG_274:g.21104_21105delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.836_837delinsAC ENSP00000252444.6:p.Asp279=
ENST00000559340.2:c.578_579delinsAC ENSP00000453696.2:p.Asp193=
ENST00000560467.2:c.578_579delinsAC ENSP00000453513.2:p.Asp193=
ENST00000558518.6:c.578_579delinsAC MANE Select ENSP00000454071.1:p.Asp193=
ENST00000252444.9:c.832_833delinsAC
ENST00000455727.6:c.314-1908_314-1907delinsAC ENSP00000397829.2:n.314-1908_314-1907delinsAC
ENST00000535915.5:c.455_456delinsAC ENSP00000440520.1:p.Asp152=
ENST00000545707.5:c.314-1081_314-1080delinsAC ENSP00000437639.1:n.314-1081_314-1080delinsAC
ENST00000557933.5:c.578_579delinsAC ENSP00000453557.1:p.Asp193=
ENST00000558013.5:c.578_579delinsAC ENSP00000453346.1:p.Asp193=
ENST00000558518.5:c.578_579delinsAC ENSP00000454071.1:p.Asp193=
ENST00000560467.1:c.178_179delinsAC
NM_000527.4:c.578_579delinsAC , LRG_274t1:c.578_579delinsAC NP_000518.1:p.Asp193=
NM_001195798.1:c.578_579delinsAC NP_001182727.1:p.Asp193=
NM_001195799.1:c.455_456delinsAC NP_001182728.1:p.Asp152=
NM_001195800.1:c.314-1908_314-1907delinsAC NP_001182729.1:n.314-1908_314-1907delinsAC
NM_001195803.1:c.314-1081_314-1080delinsAC NP_001182732.1:n.314-1081_314-1080delinsAC
XM_011528010.1:c.578_579delinsAC XP_011526312.1:p.Asp193=
XM_011528011.1:c.314-1081_314-1080delinsAC XP_011526313.1:n.314-1081_314-1080delinsAC
XR_244074.2:n.728_729delinsAC
XM_011528010.2:c.578_579delinsAC XP_011526312.1:p.Asp193=
XR_001753685.2:n.695_696delinsAC
XR_001753686.2:n.695_696delinsAC
NM_000527.5:c.578_579delinsAC MANE Select NP_000518.1:p.Asp193=
NM_001195798.2:c.578_579delinsAC NP_001182727.1:p.Asp193=
NM_001195799.2:c.455_456delinsAC NP_001182728.1:p.Asp152=
NM_001195800.2:c.314-1908_314-1907delinsAC NP_001182729.1:n.314-1908_314-1907delinsAC
NM_001195803.2:c.314-1081_314-1080delinsAC NP_001182732.1:n.314-1081_314-1080delinsAC