Canonical Allele Identifier: CA2322767297
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105252_11105255delinsTGCC , CM000681.2:g.11105252_11105255delinsTGCC GRCh38
NC_000019.9:g.11215928_11215931delinsTGCC , CM000681.1:g.11215928_11215931delinsTGCC GRCh37
NC_000019.8:g.11076928_11076931delinsTGCC NCBI36
NG_009060.1:g.20872_20875delinsTGCC , LRG_274:g.20872_20875delinsTGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.604_607delinsTGCC ENSP00000252444.6:p.Cys202=
ENST00000559340.2:c.346_349delinsTGCC ENSP00000453696.2:p.Cys116=
ENST00000560467.2:c.346_349delinsTGCC ENSP00000453513.2:p.Cys116=
ENST00000558518.6:c.346_349delinsTGCC MANE Select ENSP00000454071.1:p.Cys116=
ENST00000252444.9:c.600_603delinsTGCC
ENST00000455727.6:c.314-2140_314-2137delinsTGCC ENSP00000397829.2:n.314-2140_314-2137delinsTGCC
ENST00000535915.5:c.223_226delinsTGCC ENSP00000440520.1:p.Cys75=
ENST00000545707.5:c.314-1313_314-1310delinsTGCC ENSP00000437639.1:n.314-1313_314-1310delinsTGCC
ENST00000557933.5:c.346_349delinsTGCC ENSP00000453557.1:p.Cys116=
ENST00000558013.5:c.346_349delinsTGCC ENSP00000453346.1:p.Cys116=
ENST00000558518.5:c.346_349delinsTGCC ENSP00000454071.1:p.Cys116=
NM_000527.4:c.346_349delinsTGCC , LRG_274t1:c.346_349delinsTGCC NP_000518.1:p.Cys116=
NM_001195798.1:c.346_349delinsTGCC NP_001182727.1:p.Cys116=
NM_001195799.1:c.223_226delinsTGCC NP_001182728.1:p.Cys75=
NM_001195800.1:c.314-2140_314-2137delinsTGCC NP_001182729.1:n.314-2140_314-2137delinsTGCC
NM_001195803.1:c.314-1313_314-1310delinsTGCC NP_001182732.1:n.314-1313_314-1310delinsTGCC
XM_011528010.1:c.346_349delinsTGCC XP_011526312.1:p.Cys116=
XM_011528011.1:c.314-1313_314-1310delinsTGCC XP_011526313.1:n.314-1313_314-1310delinsTGCC
XR_244074.2:n.496_499delinsTGCC
XM_011528010.2:c.346_349delinsTGCC XP_011526312.1:p.Cys116=
XR_001753685.2:n.463_466delinsTGCC
XR_001753686.2:n.463_466delinsTGCC
NM_000527.5:c.346_349delinsTGCC MANE Select NP_000518.1:p.Cys116=
NM_001195798.2:c.346_349delinsTGCC NP_001182727.1:p.Cys116=
NM_001195799.2:c.223_226delinsTGCC NP_001182728.1:p.Cys75=
NM_001195800.2:c.314-2140_314-2137delinsTGCC NP_001182729.1:n.314-2140_314-2137delinsTGCC
NM_001195803.2:c.314-1313_314-1310delinsTGCC NP_001182732.1:n.314-1313_314-1310delinsTGCC