Canonical Allele Identifier: CA2582475591
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11123495-A-AGTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123496_11123498dup , CM000681.2:g.11123496_11123498dup GRCh38
NC_000019.9:g.11234172_11234174dup , CM000681.1:g.11234172_11234174dup GRCh37
NC_000019.8:g.11095172_11095174dup NCBI36
NG_009060.1:g.39116_39118dup , LRG_274:g.39116_39118dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2569+152_2569+154dup ENSP00000252444.6:n.2569+152_2569+154dup
ENST00000559340.2:c.*380+152_*380+154dup ENSP00000453696.2:n.*380+152_*380+154dup
ENST00000560467.2:c.2191+152_2191+154dup ENSP00000453513.2:n.2191+152_2191+154dup
ENST00000558518.6:c.2311+152_2311+154dup MANE Select ENSP00000454071.1:n.2311+152_2311+154dup
ENST00000252444.9:c.2565+152_2565+154dup
ENST00000455727.6:c.1807+152_1807+154dup ENSP00000397829.2:n.1807+152_1807+154dup
ENST00000535915.5:c.2188+152_2188+154dup ENSP00000440520.1:n.2188+152_2188+154dup
ENST00000545707.5:c.1777+152_1777+154dup ENSP00000437639.1:n.1777+152_1777+154dup
ENST00000557933.5:c.2311+152_2311+154dup ENSP00000453557.1:n.2311+152_2311+154dup
ENST00000558013.5:c.2311+152_2311+154dup ENSP00000453346.1:n.2311+152_2311+154dup
ENST00000558518.5:c.2311+152_2311+154dup ENSP00000454071.1:n.2311+152_2311+154dup
NM_000527.4:c.2311+152_2311+154dup , LRG_274t1:c.2311+152_2311+154dup NP_000518.1:n.2311+152_2311+154dup
NM_001195798.1:c.2311+152_2311+154dup NP_001182727.1:n.2311+152_2311+154dup
NM_001195799.1:c.2188+152_2188+154dup NP_001182728.1:n.2188+152_2188+154dup
NM_001195800.1:c.1807+152_1807+154dup NP_001182729.1:n.1807+152_1807+154dup
NM_001195803.1:c.1777+152_1777+154dup NP_001182732.1:n.1777+152_1777+154dup
XM_011528010.1:c.2311+152_2311+154dup XP_011526312.1:n.2311+152_2311+154dup
XM_011528011.1:c.1930+152_1930+154dup XP_011526313.1:n.1930+152_1930+154dup
XR_244074.2:n.2321+152_2321+154dup
XM_011528010.2:c.2311+152_2311+154dup XP_011526312.1:n.2311+152_2311+154dup
XR_001753685.2:n.2645+152_2645+154dup
XR_001753686.2:n.2288+152_2288+154dup
NM_000527.5:c.2311+152_2311+154dup MANE Select NP_000518.1:n.2311+152_2311+154dup
NM_001195798.2:c.2311+152_2311+154dup NP_001182727.1:n.2311+152_2311+154dup
NM_001195799.2:c.2188+152_2188+154dup NP_001182728.1:n.2188+152_2188+154dup
NM_001195800.2:c.1807+152_1807+154dup NP_001182729.1:n.1807+152_1807+154dup
NM_001195803.2:c.1777+152_1777+154dup NP_001182732.1:n.1777+152_1777+154dup
Search 100 bp 5'
Search 100 bp 3'