Canonical Allele Identifier: CA2582475370

Gene: LDLR

Linked Data

• gnomAD v4: 19-11120185-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120186dup , CM000681.2:g.11120186dup	GRCh38
NC_000019.9:g.11230862dup , CM000681.1:g.11230862dup	GRCh37
NC_000019.8:g.11091862dup	NCBI36
NG_009060.1:g.35806dup , LRG_274:g.35806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2198dup	ENSP00000252444.6:p.Ser734ValfsTer21
ENST00000559340.2:c.*9dup	ENSP00000453696.2:n.*9dup
ENST00000560467.2:c.1820dup	ENSP00000453513.2:p.Ser608ValfsTer21
ENST00000558518.6:c.1940dup MANE Select	ENSP00000454071.1:p.Ser648ValfsTer21
ENST00000252444.9:c.2194dup
ENST00000455727.6:c.1436dup	ENSP00000397829.2:p.Ser480ValfsTer21
ENST00000535915.5:c.1817dup	ENSP00000440520.1:p.Ser607ValfsTer21
ENST00000545707.5:c.1559dup	ENSP00000437639.1:p.Ser521ValfsTer18
ENST00000557933.5:c.1940dup	ENSP00000453557.1:p.Ser648ValfsTer21
ENST00000558013.5:c.1940dup	ENSP00000453346.1:p.Ser648ValfsTer21
ENST00000558518.5:c.1940dup	ENSP00000454071.1:p.Ser648ValfsTer21
ENST00000559340.1:c.521dup
NM_000527.4:c.1940dup , LRG_274t1:c.1940dup	NP_000518.1:p.Ser648ValfsTer21
NM_001195798.1:c.1940dup	NP_001182727.1:p.Ser648ValfsTer21
NM_001195799.1:c.1817dup	NP_001182728.1:p.Ser607ValfsTer21
NM_001195800.1:c.1436dup	NP_001182729.1:p.Ser480ValfsTer21
NM_001195803.1:c.1559dup	NP_001182732.1:p.Ser521ValfsTer18
XM_011528010.1:c.1940dup	XP_011526312.1:p.Ser648ValfsTer21
XM_011528011.1:c.1559dup	XP_011526313.1:p.Ser521ValfsTer21
XR_244074.2:n.1950dup
XM_011528010.2:c.1940dup	XP_011526312.1:p.Ser648ValfsTer21
XR_001753685.2:n.2057dup
XR_001753686.2:n.1917dup
NM_000527.5:c.1940dup MANE Select	NP_000518.1:p.Ser648ValfsTer21
NM_001195798.2:c.1940dup	NP_001182727.1:p.Ser648ValfsTer21
NM_001195799.2:c.1817dup	NP_001182728.1:p.Ser607ValfsTer21
NM_001195800.2:c.1436dup	NP_001182729.1:p.Ser480ValfsTer21
NM_001195803.2:c.1559dup	NP_001182732.1:p.Ser521ValfsTer18