Canonical Allele Identifier: CA2322777187
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123215_11123216delinsAG , CM000681.2:g.11123215_11123216delinsAG GRCh38
NC_000019.9:g.11233891_11233892delinsAG , CM000681.1:g.11233891_11233892delinsAG GRCh37
NC_000019.8:g.11094891_11094892delinsAG NCBI36
NG_009060.1:g.38835_38836delinsAG , LRG_274:g.38835_38836delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2440_2441delinsAG ENSP00000252444.6:p.Arg814=
ENST00000559340.2:c.*251_*252delinsAG ENSP00000453696.2:n.*251_*252delinsAG
ENST00000560467.2:c.2062_2063delinsAG ENSP00000453513.2:p.Arg688=
ENST00000558518.6:c.2182_2183delinsAG MANE Select ENSP00000454071.1:p.Arg728=
ENST00000252444.9:c.2436_2437delinsAG
ENST00000455727.6:c.1678_1679delinsAG ENSP00000397829.2:p.Arg560=
ENST00000535915.5:c.2059_2060delinsAG ENSP00000440520.1:p.Arg687=
ENST00000545707.5:c.1648_1649delinsAG ENSP00000437639.1:p.Arg550=
ENST00000557933.5:c.2182_2183delinsAG ENSP00000453557.1:p.Arg728=
ENST00000558013.5:c.2182_2183delinsAG ENSP00000453346.1:p.Arg728=
ENST00000558518.5:c.2182_2183delinsAG ENSP00000454071.1:p.Arg728=
NM_000527.4:c.2182_2183delinsAG , LRG_274t1:c.2182_2183delinsAG NP_000518.1:p.Arg728=
NM_001195798.1:c.2182_2183delinsAG NP_001182727.1:p.Arg728=
NM_001195799.1:c.2059_2060delinsAG NP_001182728.1:p.Arg687=
NM_001195800.1:c.1678_1679delinsAG NP_001182729.1:p.Arg560=
NM_001195803.1:c.1648_1649delinsAG NP_001182732.1:p.Arg550=
XM_011528010.1:c.2182_2183delinsAG XP_011526312.1:p.Arg728=
XM_011528011.1:c.1801_1802delinsAG XP_011526313.1:p.Arg601=
XR_244074.2:n.2192_2193delinsAG
XM_011528010.2:c.2182_2183delinsAG XP_011526312.1:p.Arg728=
XR_001753685.2:n.2516_2517delinsAG
XR_001753686.2:n.2159_2160delinsAG
NM_000527.5:c.2182_2183delinsAG MANE Select NP_000518.1:p.Arg728=
NM_001195798.2:c.2182_2183delinsAG NP_001182727.1:p.Arg728=
NM_001195799.2:c.2059_2060delinsAG NP_001182728.1:p.Arg687=
NM_001195800.2:c.1678_1679delinsAG NP_001182729.1:p.Arg560=
NM_001195803.2:c.1648_1649delinsAG NP_001182732.1:p.Arg550=