Canonical Allele Identifier: CA2322772682
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077442457
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11114965_11114974dup , CM000681.2:g.11114965_11114974dup GRCh38
NC_000019.9:g.11225641_11225650dup , CM000681.1:g.11225641_11225650dup GRCh37
NC_000019.8:g.11086641_11086650dup NCBI36
NG_009060.1:g.30585_30594dup , LRG_274:g.30585_30594dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1845-1129_1845-1120dup ENSP00000252444.6:n.1845-1129_1845-1120dup
ENST00000559340.2:c.1587-1129_1587-1120dup ENSP00000453696.2:n.1587-1129_1587-1120dup
ENST00000560467.2:c.1467-1129_1467-1120dup ENSP00000453513.2:n.1467-1129_1467-1120dup
ENST00000558518.6:c.1587-1129_1587-1120dup MANE Select ENSP00000454071.1:n.1587-1129_1587-1120dup
ENST00000252444.9:c.1841-1129_1841-1120dup
ENST00000455727.6:c.1083-1129_1083-1120dup ENSP00000397829.2:n.1083-1129_1083-1120dup
ENST00000535915.5:c.1464-1129_1464-1120dup ENSP00000440520.1:n.1464-1129_1464-1120dup
ENST00000545707.5:c.1206-1129_1206-1120dup ENSP00000437639.1:n.1206-1129_1206-1120dup
ENST00000557933.5:c.1587-1129_1587-1120dup ENSP00000453557.1:n.1587-1129_1587-1120dup
ENST00000558013.5:c.1587-1129_1587-1120dup ENSP00000453346.1:n.1587-1129_1587-1120dup
ENST00000558518.5:c.1587-1129_1587-1120dup ENSP00000454071.1:n.1587-1129_1587-1120dup
ENST00000559340.1:c.308-1129_308-1120dup
NM_000527.4:c.1587-1129_1587-1120dup , LRG_274t1:c.1587-1129_1587-1120dup NP_000518.1:n.1587-1129_1587-1120dup
NM_001195798.1:c.1587-1129_1587-1120dup NP_001182727.1:n.1587-1129_1587-1120dup
NM_001195799.1:c.1464-1129_1464-1120dup NP_001182728.1:n.1464-1129_1464-1120dup
NM_001195800.1:c.1083-1129_1083-1120dup NP_001182729.1:n.1083-1129_1083-1120dup
NM_001195803.1:c.1206-1129_1206-1120dup NP_001182732.1:n.1206-1129_1206-1120dup
XM_011528010.1:c.1587-1129_1587-1120dup XP_011526312.1:n.1587-1129_1587-1120dup
XM_011528011.1:c.1206-1129_1206-1120dup XP_011526313.1:n.1206-1129_1206-1120dup
XR_244074.2:n.1737-1129_1737-1120dup
XM_011528010.2:c.1587-1129_1587-1120dup XP_011526312.1:n.1587-1129_1587-1120dup
XR_001753685.2:n.1704-1129_1704-1120dup
XR_001753686.2:n.1704-1129_1704-1120dup
NM_000527.5:c.1587-1129_1587-1120dup MANE Select NP_000518.1:n.1587-1129_1587-1120dup
NM_001195798.2:c.1587-1129_1587-1120dup NP_001182727.1:n.1587-1129_1587-1120dup
NM_001195799.2:c.1464-1129_1464-1120dup NP_001182728.1:n.1464-1129_1464-1120dup
NM_001195800.2:c.1083-1129_1083-1120dup NP_001182729.1:n.1083-1129_1083-1120dup
NM_001195803.2:c.1206-1129_1206-1120dup NP_001182732.1:n.1206-1129_1206-1120dup
Search 100 bp 5'
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