Canonical Allele Identifier: CA2322777289
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077588542
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123360_11123364dup , CM000681.2:g.11123360_11123364dup GRCh38
NC_000019.9:g.11234036_11234040dup , CM000681.1:g.11234036_11234040dup GRCh37
NC_000019.8:g.11095036_11095040dup NCBI36
NG_009060.1:g.38980_38984dup , LRG_274:g.38980_38984dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2569+16_2569+20dup ENSP00000252444.6:n.2569+16_2569+20dup
ENST00000559340.2:c.*380+16_*380+20dup ENSP00000453696.2:n.*380+16_*380+20dup
ENST00000560467.2:c.2191+16_2191+20dup ENSP00000453513.2:n.2191+16_2191+20dup
ENST00000558518.6:c.2311+16_2311+20dup MANE Select ENSP00000454071.1:n.2311+16_2311+20dup
ENST00000252444.9:c.2565+16_2565+20dup
ENST00000455727.6:c.1807+16_1807+20dup ENSP00000397829.2:n.1807+16_1807+20dup
ENST00000535915.5:c.2188+16_2188+20dup ENSP00000440520.1:n.2188+16_2188+20dup
ENST00000545707.5:c.1777+16_1777+20dup ENSP00000437639.1:n.1777+16_1777+20dup
ENST00000557933.5:c.2311+16_2311+20dup ENSP00000453557.1:n.2311+16_2311+20dup
ENST00000558013.5:c.2311+16_2311+20dup ENSP00000453346.1:n.2311+16_2311+20dup
ENST00000558518.5:c.2311+16_2311+20dup ENSP00000454071.1:n.2311+16_2311+20dup
NM_000527.4:c.2311+16_2311+20dup , LRG_274t1:c.2311+16_2311+20dup NP_000518.1:n.2311+16_2311+20dup
NM_001195798.1:c.2311+16_2311+20dup NP_001182727.1:n.2311+16_2311+20dup
NM_001195799.1:c.2188+16_2188+20dup NP_001182728.1:n.2188+16_2188+20dup
NM_001195800.1:c.1807+16_1807+20dup NP_001182729.1:n.1807+16_1807+20dup
NM_001195803.1:c.1777+16_1777+20dup NP_001182732.1:n.1777+16_1777+20dup
XM_011528010.1:c.2311+16_2311+20dup XP_011526312.1:n.2311+16_2311+20dup
XM_011528011.1:c.1930+16_1930+20dup XP_011526313.1:n.1930+16_1930+20dup
XR_244074.2:n.2321+16_2321+20dup
XM_011528010.2:c.2311+16_2311+20dup XP_011526312.1:n.2311+16_2311+20dup
XR_001753685.2:n.2645+16_2645+20dup
XR_001753686.2:n.2288+16_2288+20dup
NM_000527.5:c.2311+16_2311+20dup MANE Select NP_000518.1:n.2311+16_2311+20dup
NM_001195798.2:c.2311+16_2311+20dup NP_001182727.1:n.2311+16_2311+20dup
NM_001195799.2:c.2188+16_2188+20dup NP_001182728.1:n.2188+16_2188+20dup
NM_001195800.2:c.1807+16_1807+20dup NP_001182729.1:n.1807+16_1807+20dup
NM_001195803.2:c.1777+16_1777+20dup NP_001182732.1:n.1777+16_1777+20dup
Search 100 bp 5'
Search 100 bp 3'