Canonical Allele Identifier: CA2582476586
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11129795-T-TCTA
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129795_11129796insCTA , CM000681.2:g.11129795_11129796insCTA GRCh38
NC_000019.9:g.11240471_11240472insCTA , CM000681.1:g.11240471_11240472insCTA GRCh37
NC_000019.8:g.11101471_11101472insCTA NCBI36
NG_009060.1:g.45415_45416insCTA , LRG_274:g.45415_45416insCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2805+125_2805+126insCTA ENSP00000252444.6:n.2805+125_2805+126insCTA
ENST00000559340.2:c.*616+125_*616+126insCTA ENSP00000453696.2:n.*616+125_*616+126insCTA
ENST00000560467.2:c.2427+125_2427+126insCTA ENSP00000453513.2:n.2427+125_2427+126insCTA
ENST00000558518.6:c.2547+125_2547+126insCTA MANE Select ENSP00000454071.1:n.2547+125_2547+126insCTA
ENST00000252444.9:c.2801+125_2801+126insCTA
ENST00000455727.6:c.2043+125_2043+126insCTA ENSP00000397829.2:n.2043+125_2043+126insCTA
ENST00000535915.5:c.2424+125_2424+126insCTA ENSP00000440520.1:n.2424+125_2424+126insCTA
ENST00000545707.5:c.2013+125_2013+126insCTA ENSP00000437639.1:n.2013+125_2013+126insCTA
ENST00000557933.5:c.2609+125_2609+126insCTA ENSP00000453557.1:n.2609+125_2609+126insCTA
ENST00000558013.5:c.2547+125_2547+126insCTA ENSP00000453346.1:n.2547+125_2547+126insCTA
ENST00000558518.5:c.2547+125_2547+126insCTA ENSP00000454071.1:n.2547+125_2547+126insCTA
ENST00000560628.1:n.108+2141_108+2142insCTA
NM_000527.4:c.2547+125_2547+126insCTA , LRG_274t1:c.2547+125_2547+126insCTA NP_000518.1:n.2547+125_2547+126insCTA
NM_001195798.1:c.2547+125_2547+126insCTA NP_001182727.1:n.2547+125_2547+126insCTA
NM_001195799.1:c.2424+125_2424+126insCTA NP_001182728.1:n.2424+125_2424+126insCTA
NM_001195800.1:c.2043+125_2043+126insCTA NP_001182729.1:n.2043+125_2043+126insCTA
NM_001195803.1:c.2013+125_2013+126insCTA NP_001182732.1:n.2013+125_2013+126insCTA
XM_011528010.1:c.2469+125_2469+126insCTA XP_011526312.1:n.2469+125_2469+126insCTA
XM_011528011.1:c.2166+125_2166+126insCTA XP_011526313.1:n.2166+125_2166+126insCTA
XM_011528010.2:c.2469+125_2469+126insCTA XP_011526312.1:n.2469+125_2469+126insCTA
XR_001753685.2:n.2881+125_2881+126insCTA
XR_001753686.2:n.2524+125_2524+126insCTA
NM_000527.5:c.2547+125_2547+126insCTA MANE Select NP_000518.1:n.2547+125_2547+126insCTA
NM_001195798.2:c.2547+125_2547+126insCTA NP_001182727.1:n.2547+125_2547+126insCTA
NM_001195799.2:c.2424+125_2424+126insCTA NP_001182728.1:n.2424+125_2424+126insCTA
NM_001195800.2:c.2043+125_2043+126insCTA NP_001182729.1:n.2043+125_2043+126insCTA
NM_001195803.2:c.2013+125_2013+126insCTA NP_001182732.1:n.2013+125_2013+126insCTA
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