Canonical Allele Identifier: CA2739276489
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2849735
ClinVar RCV Id: RCV003742161
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129531_11129548dup , CM000681.2:g.11129531_11129548dup GRCh38
NC_000019.9:g.11240207_11240224dup , CM000681.1:g.11240207_11240224dup GRCh37
NC_000019.8:g.11101207_11101224dup NCBI36
NG_009060.1:g.45151_45168dup , LRG_274:g.45151_45168dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2666_2683dup ENSP00000252444.6:p.Leu894_Leu895insArgLeuGlyValPheLeu
ENST00000559340.2:c.*477_*494dup ENSP00000453696.2:n.*477_*494dup
ENST00000560467.2:c.2288_2305dup ENSP00000453513.2:p.Leu768_Leu769insArgLeuGlyValPheLeu
ENST00000558518.6:c.2408_2425dup MANE Select ENSP00000454071.1:p.Leu808_Leu809insArgLeuGlyValPheLeu
ENST00000252444.9:c.2662_2679dup
ENST00000455727.6:c.1904_1921dup ENSP00000397829.2:p.Leu640_Leu641insArgLeuGlyValPheLeu
ENST00000535915.5:c.2285_2302dup ENSP00000440520.1:p.Leu767_Leu768insArgLeuGlyValPheLeu
ENST00000545707.5:c.1874_1891dup ENSP00000437639.1:p.Leu630_Leu631insArgLeuGlyValPheLeu
ENST00000557933.5:c.2470_2487dup ENSP00000453557.1:p.Phe829_Tyr830insAlaTrpGlySerSerPhe
ENST00000558013.5:c.2408_2425dup ENSP00000453346.1:p.Leu808_Leu809insArgLeuGlyValPheLeu
ENST00000558518.5:c.2408_2425dup ENSP00000454071.1:p.Leu808_Leu809insArgLeuGlyValPheLeu
ENST00000560628.1:n.108+1877_108+1894dup
NM_000527.4:c.2408_2425dup , LRG_274t1:c.2408_2425dup NP_000518.1:p.Leu808_Leu809insArgLeuGlyValPheLeu
NM_001195798.1:c.2408_2425dup NP_001182727.1:p.Leu808_Leu809insArgLeuGlyValPheLeu
NM_001195799.1:c.2285_2302dup NP_001182728.1:p.Leu767_Leu768insArgLeuGlyValPheLeu
NM_001195800.1:c.1904_1921dup NP_001182729.1:p.Leu640_Leu641insArgLeuGlyValPheLeu
NM_001195803.1:c.1874_1891dup NP_001182732.1:p.Leu630_Leu631insArgLeuGlyValPheLeu
XM_011528010.1:c.2330_2347dup XP_011526312.1:p.Leu782_Leu783insArgLeuGlyValPheLeu
XM_011528011.1:c.2027_2044dup XP_011526313.1:p.Leu681_Leu682insArgLeuGlyValPheLeu
XR_244074.2:n.2418_2435dup
XM_011528010.2:c.2330_2347dup XP_011526312.1:p.Leu782_Leu783insArgLeuGlyValPheLeu
XR_001753685.2:n.2742_2759dup
XR_001753686.2:n.2385_2402dup
NM_000527.5:c.2408_2425dup MANE Select NP_000518.1:p.Leu808_Leu809insArgLeuGlyValPheLeu
NM_001195798.2:c.2408_2425dup NP_001182727.1:p.Leu808_Leu809insArgLeuGlyValPheLeu
NM_001195799.2:c.2285_2302dup NP_001182728.1:p.Leu767_Leu768insArgLeuGlyValPheLeu
NM_001195800.2:c.1904_1921dup NP_001182729.1:p.Leu640_Leu641insArgLeuGlyValPheLeu
NM_001195803.2:c.1874_1891dup NP_001182732.1:p.Leu630_Leu631insArgLeuGlyValPheLeu
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