Canonical Allele Identifier: CA2322777192
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123222_11123223delinsAG , CM000681.2:g.11123222_11123223delinsAG GRCh38
NC_000019.9:g.11233898_11233899delinsAG , CM000681.1:g.11233898_11233899delinsAG GRCh37
NC_000019.8:g.11094898_11094899delinsAG NCBI36
NG_009060.1:g.38842_38843delinsAG , LRG_274:g.38842_38843delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2447_2448delinsAG ENSP00000252444.6:p.Lys816=
ENST00000559340.2:c.*258_*259delinsAG ENSP00000453696.2:n.*258_*259delinsAG
ENST00000560467.2:c.2069_2070delinsAG ENSP00000453513.2:p.Lys690=
ENST00000558518.6:c.2189_2190delinsAG MANE Select ENSP00000454071.1:p.Lys730=
ENST00000252444.9:c.2443_2444delinsAG
ENST00000455727.6:c.1685_1686delinsAG ENSP00000397829.2:p.Lys562=
ENST00000535915.5:c.2066_2067delinsAG ENSP00000440520.1:p.Lys689=
ENST00000545707.5:c.1655_1656delinsAG ENSP00000437639.1:p.Lys552=
ENST00000557933.5:c.2189_2190delinsAG ENSP00000453557.1:p.Lys730=
ENST00000558013.5:c.2189_2190delinsAG ENSP00000453346.1:p.Lys730=
ENST00000558518.5:c.2189_2190delinsAG ENSP00000454071.1:p.Lys730=
NM_000527.4:c.2189_2190delinsAG , LRG_274t1:c.2189_2190delinsAG NP_000518.1:p.Lys730=
NM_001195798.1:c.2189_2190delinsAG NP_001182727.1:p.Lys730=
NM_001195799.1:c.2066_2067delinsAG NP_001182728.1:p.Lys689=
NM_001195800.1:c.1685_1686delinsAG NP_001182729.1:p.Lys562=
NM_001195803.1:c.1655_1656delinsAG NP_001182732.1:p.Lys552=
XM_011528010.1:c.2189_2190delinsAG XP_011526312.1:p.Lys730=
XM_011528011.1:c.1808_1809delinsAG XP_011526313.1:p.Lys603=
XR_244074.2:n.2199_2200delinsAG
XM_011528010.2:c.2189_2190delinsAG XP_011526312.1:p.Lys730=
XR_001753685.2:n.2523_2524delinsAG
XR_001753686.2:n.2166_2167delinsAG
NM_000527.5:c.2189_2190delinsAG MANE Select NP_000518.1:p.Lys730=
NM_001195798.2:c.2189_2190delinsAG NP_001182727.1:p.Lys730=
NM_001195799.2:c.2066_2067delinsAG NP_001182728.1:p.Lys689=
NM_001195800.2:c.1685_1686delinsAG NP_001182729.1:p.Lys562=
NM_001195803.2:c.1655_1656delinsAG NP_001182732.1:p.Lys552=