Canonical Allele Identifier: CA2580096619
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2123700
ClinVar RCV Id: RCV003055207

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120367dup , CM000681.2:g.11120367dup GRCh38
NC_000019.9:g.11231043dup , CM000681.1:g.11231043dup GRCh37
NC_000019.8:g.11092043dup NCBI36
NG_009060.1:g.35987dup , LRG_274:g.35987dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2246-3dup ENSP00000252444.6:n.2246-3dup
ENST00000559340.2:c.*57-3dup ENSP00000453696.2:n.*57-3dup
ENST00000560467.2:c.1868-3dup ENSP00000453513.2:n.1868-3dup
ENST00000558518.6:c.1988-3dup MANE Select ENSP00000454071.1:n.1988-3dup
ENST00000252444.9:c.2242-3dup
ENST00000455727.6:c.1484-3dup ENSP00000397829.2:n.1484-3dup
ENST00000535915.5:c.1865-3dup ENSP00000440520.1:n.1865-3dup
ENST00000545707.5:c.1606+134dup ENSP00000437639.1:n.1606+134dup
ENST00000557933.5:c.1988-3dup ENSP00000453557.1:n.1988-3dup
ENST00000558013.5:c.1988-3dup ENSP00000453346.1:n.1988-3dup
ENST00000558518.5:c.1988-3dup ENSP00000454071.1:n.1988-3dup
ENST00000559340.1:c.569-3dup
NM_000527.4:c.1988-3dup , LRG_274t1:c.1988-3dup NP_000518.1:n.1988-3dup
NM_001195798.1:c.1988-3dup NP_001182727.1:n.1988-3dup
NM_001195799.1:c.1865-3dup NP_001182728.1:n.1865-3dup
NM_001195800.1:c.1484-3dup NP_001182729.1:n.1484-3dup
NM_001195803.1:c.1606+134dup NP_001182732.1:n.1606+134dup
XM_011528010.1:c.1988-3dup XP_011526312.1:n.1988-3dup
XM_011528011.1:c.1607-3dup XP_011526313.1:n.1607-3dup
XR_244074.2:n.1998-3dup
XM_011528010.2:c.1988-3dup XP_011526312.1:n.1988-3dup
XR_001753685.2:n.2105-3dup
XR_001753686.2:n.1965-3dup
NM_000527.5:c.1988-3dup MANE Select NP_000518.1:n.1988-3dup
NM_001195798.2:c.1988-3dup NP_001182727.1:n.1988-3dup
NM_001195799.2:c.1865-3dup NP_001182728.1:n.1865-3dup
NM_001195800.2:c.1484-3dup NP_001182729.1:n.1484-3dup
NM_001195803.2:c.1606+134dup NP_001182732.1:n.1606+134dup