Canonical Allele Identifier: CA2582476516
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11129680-CCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129685_11129686del , CM000681.2:g.11129685_11129686del GRCh38
NC_000019.9:g.11240361_11240362del , CM000681.1:g.11240361_11240362del GRCh37
NC_000019.8:g.11101361_11101362del NCBI36
NG_009060.1:g.45305_45306del , LRG_274:g.45305_45306del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2805+15_2805+16del ENSP00000252444.6:n.2805+15_2805+16del
ENST00000559340.2:c.*616+15_*616+16del ENSP00000453696.2:n.*616+15_*616+16del
ENST00000560467.2:c.2427+15_2427+16del ENSP00000453513.2:n.2427+15_2427+16del
ENST00000558518.6:c.2547+15_2547+16del MANE Select ENSP00000454071.1:n.2547+15_2547+16del
ENST00000252444.9:c.2801+15_2801+16del
ENST00000455727.6:c.2043+15_2043+16del ENSP00000397829.2:n.2043+15_2043+16del
ENST00000535915.5:c.2424+15_2424+16del ENSP00000440520.1:n.2424+15_2424+16del
ENST00000545707.5:c.2013+15_2013+16del ENSP00000437639.1:n.2013+15_2013+16del
ENST00000557933.5:c.2609+15_2609+16del ENSP00000453557.1:n.2609+15_2609+16del
ENST00000558013.5:c.2547+15_2547+16del ENSP00000453346.1:n.2547+15_2547+16del
ENST00000558518.5:c.2547+15_2547+16del ENSP00000454071.1:n.2547+15_2547+16del
ENST00000560628.1:n.108+2031_108+2032del
NM_000527.4:c.2547+15_2547+16del , LRG_274t1:c.2547+15_2547+16del NP_000518.1:n.2547+15_2547+16del
NM_001195798.1:c.2547+15_2547+16del NP_001182727.1:n.2547+15_2547+16del
NM_001195799.1:c.2424+15_2424+16del NP_001182728.1:n.2424+15_2424+16del
NM_001195800.1:c.2043+15_2043+16del NP_001182729.1:n.2043+15_2043+16del
NM_001195803.1:c.2013+15_2013+16del NP_001182732.1:n.2013+15_2013+16del
XM_011528010.1:c.2469+15_2469+16del XP_011526312.1:n.2469+15_2469+16del
XM_011528011.1:c.2166+15_2166+16del XP_011526313.1:n.2166+15_2166+16del
XM_011528010.2:c.2469+15_2469+16del XP_011526312.1:n.2469+15_2469+16del
XR_001753685.2:n.2881+15_2881+16del
XR_001753686.2:n.2524+15_2524+16del
NM_000527.5:c.2547+15_2547+16del MANE Select NP_000518.1:n.2547+15_2547+16del
NM_001195798.2:c.2547+15_2547+16del NP_001182727.1:n.2547+15_2547+16del
NM_001195799.2:c.2424+15_2424+16del NP_001182728.1:n.2424+15_2424+16del
NM_001195800.2:c.2043+15_2043+16del NP_001182729.1:n.2043+15_2043+16del
NM_001195803.2:c.2013+15_2013+16del NP_001182732.1:n.2013+15_2013+16del
Search 100 bp 5'
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