Canonical Allele Identifier: CA2697556247

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2765602
• ClinVar RCV Id: RCV003583104

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116925dup , CM000681.2:g.11116925dup	GRCh38
NC_000019.9:g.11227601dup , CM000681.1:g.11227601dup	GRCh37
NC_000019.8:g.11088601dup	NCBI36
NG_009060.1:g.32545dup , LRG_274:g.32545dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2030dup	ENSP00000252444.6:p.Asn677LysfsTer12
ENST00000559340.2:c.1705+713dup	ENSP00000453696.2:n.1705+713dup
ENST00000560467.2:c.1652dup	ENSP00000453513.2:p.Asn551LysfsTer12
ENST00000558518.6:c.1772dup MANE Select	ENSP00000454071.1:p.Asn591LysfsTer12
ENST00000252444.9:c.2026dup
ENST00000455727.6:c.1268dup	ENSP00000397829.2:p.Asn423LysfsTer12
ENST00000535915.5:c.1649dup	ENSP00000440520.1:p.Asn550LysfsTer12
ENST00000545707.5:c.1391dup	ENSP00000437639.1:p.Asn464LysfsTer12
ENST00000557933.5:c.1772dup	ENSP00000453557.1:p.Asn591LysfsTer12
ENST00000558013.5:c.1772dup	ENSP00000453346.1:p.Asn591LysfsTer12
ENST00000558518.5:c.1772dup	ENSP00000454071.1:p.Asn591LysfsTer12
ENST00000559340.1:c.426+713dup
NM_000527.4:c.1772dup , LRG_274t1:c.1772dup	NP_000518.1:p.Asn591LysfsTer12
NM_001195798.1:c.1772dup	NP_001182727.1:p.Asn591LysfsTer12
NM_001195799.1:c.1649dup	NP_001182728.1:p.Asn550LysfsTer12
NM_001195800.1:c.1268dup	NP_001182729.1:p.Asn423LysfsTer12
NM_001195803.1:c.1391dup	NP_001182732.1:p.Asn464LysfsTer12
XM_011528010.1:c.1772dup	XP_011526312.1:p.Asn591LysfsTer12
XM_011528011.1:c.1391dup	XP_011526313.1:p.Asn464LysfsTer12
XR_244074.2:n.1855+713dup
XM_011528010.2:c.1772dup	XP_011526312.1:p.Asn591LysfsTer12
XR_001753685.2:n.1889dup
XR_001753686.2:n.1822+713dup
NM_000527.5:c.1772dup MANE Select	NP_000518.1:p.Asn591LysfsTer12
NM_001195798.2:c.1772dup	NP_001182727.1:p.Asn591LysfsTer12
NM_001195799.2:c.1649dup	NP_001182728.1:p.Asn550LysfsTer12
NM_001195800.2:c.1268dup	NP_001182729.1:p.Asn423LysfsTer12
NM_001195803.2:c.1391dup	NP_001182732.1:p.Asn464LysfsTer12