Canonical Allele Identifier: CA2322767199
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077264203
gnomAD v4: 19-11105106-A-AG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105107dup , CM000681.2:g.11105107dup GRCh38
NC_000019.9:g.11215783dup , CM000681.1:g.11215783dup GRCh37
NC_000019.8:g.11076783dup NCBI36
NG_009060.1:g.20727dup , LRG_274:g.20727dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.572-113dup ENSP00000252444.6:n.572-113dup
ENST00000559340.2:c.314-113dup ENSP00000453696.2:n.314-113dup
ENST00000560467.2:c.314-113dup ENSP00000453513.2:n.314-113dup
ENST00000558518.6:c.314-113dup MANE Select ENSP00000454071.1:n.314-113dup
ENST00000252444.9:c.568-113dup
ENST00000455727.6:c.314-2285dup ENSP00000397829.2:n.314-2285dup
ENST00000535915.5:c.191-113dup ENSP00000440520.1:n.191-113dup
ENST00000545707.5:c.314-1458dup ENSP00000437639.1:n.314-1458dup
ENST00000557933.5:c.314-113dup ENSP00000453557.1:n.314-113dup
ENST00000558013.5:c.314-113dup ENSP00000453346.1:n.314-113dup
ENST00000558518.5:c.314-113dup ENSP00000454071.1:n.314-113dup
NM_000527.4:c.314-113dup , LRG_274t1:c.314-113dup NP_000518.1:n.314-113dup
NM_001195798.1:c.314-113dup NP_001182727.1:n.314-113dup
NM_001195799.1:c.191-113dup NP_001182728.1:n.191-113dup
NM_001195800.1:c.314-2285dup NP_001182729.1:n.314-2285dup
NM_001195803.1:c.314-1458dup NP_001182732.1:n.314-1458dup
XM_011528010.1:c.314-113dup XP_011526312.1:n.314-113dup
XM_011528011.1:c.314-1458dup XP_011526313.1:n.314-1458dup
XR_244074.2:n.464-113dup
XM_011528010.2:c.314-113dup XP_011526312.1:n.314-113dup
XR_001753685.2:n.431-113dup
XR_001753686.2:n.431-113dup
NM_000527.5:c.314-113dup MANE Select NP_000518.1:n.314-113dup
NM_001195798.2:c.314-113dup NP_001182727.1:n.314-113dup
NM_001195799.2:c.191-113dup NP_001182728.1:n.191-113dup
NM_001195800.2:c.314-2285dup NP_001182729.1:n.314-2285dup
NM_001195803.2:c.314-1458dup NP_001182732.1:n.314-1458dup
Search 100 bp 5'
Search 100 bp 3'