Canonical Allele Identifier: CA2322768563
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107393_11107394delinsGA , CM000681.2:g.11107393_11107394delinsGA GRCh38
NC_000019.9:g.11218069_11218070delinsGA , CM000681.1:g.11218069_11218070delinsGA GRCh37
NC_000019.8:g.11079069_11079070delinsGA NCBI36
NG_009060.1:g.23013_23014delinsGA , LRG_274:g.23013_23014delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1077_1078delinsGA ENSP00000252444.6:p.Val359=
ENST00000559340.2:c.819_820delinsGA ENSP00000453696.2:p.Val273=
ENST00000560467.2:c.819_820delinsGA ENSP00000453513.2:p.Val273=
ENST00000558518.6:c.819_820delinsGA MANE Select ENSP00000454071.1:p.Val273=
ENST00000252444.9:c.1073_1074delinsGA
ENST00000455727.6:c.315_316delinsGA ENSP00000397829.2:p.Leu105=
ENST00000535915.5:c.696_697delinsGA ENSP00000440520.1:p.Val232=
ENST00000545707.5:c.438_439delinsGA ENSP00000437639.1:p.Val146=
ENST00000557933.5:c.819_820delinsGA ENSP00000453557.1:p.Val273=
ENST00000558013.5:c.819_820delinsGA ENSP00000453346.1:p.Val273=
ENST00000558518.5:c.819_820delinsGA ENSP00000454071.1:p.Val273=
ENST00000558528.1:n.334_335delinsGA
ENST00000560467.1:c.419_420delinsGA
NM_000527.4:c.819_820delinsGA , LRG_274t1:c.819_820delinsGA NP_000518.1:p.Val273=
NM_001195798.1:c.819_820delinsGA NP_001182727.1:p.Val273=
NM_001195799.1:c.696_697delinsGA NP_001182728.1:p.Val232=
NM_001195800.1:c.315_316delinsGA NP_001182729.1:p.Leu105=
NM_001195803.1:c.438_439delinsGA NP_001182732.1:p.Val146=
XM_011528010.1:c.819_820delinsGA XP_011526312.1:p.Val273=
XM_011528011.1:c.438_439delinsGA XP_011526313.1:p.Val146=
XR_244074.2:n.969_970delinsGA
XM_011528010.2:c.819_820delinsGA XP_011526312.1:p.Val273=
XR_001753685.2:n.936_937delinsGA
XR_001753686.2:n.936_937delinsGA
NM_000527.5:c.819_820delinsGA MANE Select NP_000518.1:p.Val273=
NM_001195798.2:c.819_820delinsGA NP_001182727.1:p.Val273=
NM_001195799.2:c.696_697delinsGA NP_001182728.1:p.Val232=
NM_001195800.2:c.315_316delinsGA NP_001182729.1:p.Leu105=
NM_001195803.2:c.438_439delinsGA NP_001182732.1:p.Val146=