Canonical Allele Identifier: CA2322780255
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129524_11129526delinsTTC , CM000681.2:g.11129524_11129526delinsTTC GRCh38
NC_000019.9:g.11240200_11240202delinsTTC , CM000681.1:g.11240200_11240202delinsTTC GRCh37
NC_000019.8:g.11101200_11101202delinsTTC NCBI36
NG_009060.1:g.45144_45146delinsTTC , LRG_274:g.45144_45146delinsTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2659_2661delinsTTC ENSP00000252444.6:p.Phe887=
ENST00000559340.2:c.*470_*472delinsTTC ENSP00000453696.2:n.*470_*472delinsTTC
ENST00000560467.2:c.2281_2283delinsTTC ENSP00000453513.2:p.Phe761=
ENST00000558518.6:c.2401_2403delinsTTC MANE Select ENSP00000454071.1:p.Phe801=
ENST00000252444.9:c.2655_2657delinsTTC
ENST00000455727.6:c.1897_1899delinsTTC ENSP00000397829.2:p.Phe633=
ENST00000535915.5:c.2278_2280delinsTTC ENSP00000440520.1:p.Phe760=
ENST00000545707.5:c.1867_1869delinsTTC ENSP00000437639.1:p.Phe623=
ENST00000557933.5:c.2463_2465delinsTTC ENSP00000453557.1:p.Ser821=
ENST00000558013.5:c.2401_2403delinsTTC ENSP00000453346.1:p.Phe801=
ENST00000558518.5:c.2401_2403delinsTTC ENSP00000454071.1:p.Phe801=
ENST00000560628.1:n.108+1870_108+1872delinsTTC
NM_000527.4:c.2401_2403delinsTTC , LRG_274t1:c.2401_2403delinsTTC NP_000518.1:p.Phe801=
NM_001195798.1:c.2401_2403delinsTTC NP_001182727.1:p.Phe801=
NM_001195799.1:c.2278_2280delinsTTC NP_001182728.1:p.Phe760=
NM_001195800.1:c.1897_1899delinsTTC NP_001182729.1:p.Phe633=
NM_001195803.1:c.1867_1869delinsTTC NP_001182732.1:p.Phe623=
XM_011528010.1:c.2323_2325delinsTTC XP_011526312.1:p.Phe775=
XM_011528011.1:c.2020_2022delinsTTC XP_011526313.1:p.Phe674=
XR_244074.2:n.2411_2413delinsTTC
XM_011528010.2:c.2323_2325delinsTTC XP_011526312.1:p.Phe775=
XR_001753685.2:n.2735_2737delinsTTC
XR_001753686.2:n.2378_2380delinsTTC
NM_000527.5:c.2401_2403delinsTTC MANE Select NP_000518.1:p.Phe801=
NM_001195798.2:c.2401_2403delinsTTC NP_001182727.1:p.Phe801=
NM_001195799.2:c.2278_2280delinsTTC NP_001182728.1:p.Phe760=
NM_001195800.2:c.1897_1899delinsTTC NP_001182729.1:p.Phe633=
NM_001195803.2:c.1867_1869delinsTTC NP_001182732.1:p.Phe623=