Canonical Allele Identifier: CA505743448

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2825678
• ClinVar RCV Id: RCV003741888
• COSMIC: COSM990776
• MyVariant Identifiers: chr19:g.11216182_11216183insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105506dup , CM000681.2:g.11105506dup	GRCh38
NC_000019.9:g.11216182dup , CM000681.1:g.11216182dup	GRCh37
NC_000019.8:g.11077182dup	NCBI36
NG_009060.1:g.21126dup , LRG_274:g.21126dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.858dup	ENSP00000252444.6:p.Glu287ArgfsTer17
ENST00000559340.2:c.600dup	ENSP00000453696.2:p.Glu201ArgfsTer17
ENST00000560467.2:c.600dup	ENSP00000453513.2:p.Glu201ArgfsTer17
ENST00000558518.6:c.600dup MANE Select	ENSP00000454071.1:p.Glu201ArgfsTer17
ENST00000252444.9:c.854dup
ENST00000455727.6:c.314-1886dup	ENSP00000397829.2:n.314-1886dup
ENST00000535915.5:c.477dup	ENSP00000440520.1:p.Glu160ArgfsTer17
ENST00000545707.5:c.314-1059dup	ENSP00000437639.1:n.314-1059dup
ENST00000557933.5:c.600dup	ENSP00000453557.1:p.Glu201ArgfsTer17
ENST00000558013.5:c.600dup	ENSP00000453346.1:p.Glu201ArgfsTer17
ENST00000558518.5:c.600dup	ENSP00000454071.1:p.Glu201ArgfsTer17
ENST00000560467.1:c.200dup
NM_000527.4:c.600dup , LRG_274t1:c.600dup	NP_000518.1:p.Glu201ArgfsTer17
NM_001195798.1:c.600dup	NP_001182727.1:p.Glu201ArgfsTer17
NM_001195799.1:c.477dup	NP_001182728.1:p.Glu160ArgfsTer17
NM_001195800.1:c.314-1886dup	NP_001182729.1:n.314-1886dup
NM_001195803.1:c.314-1059dup	NP_001182732.1:n.314-1059dup
XM_011528010.1:c.600dup	XP_011526312.1:p.Glu201ArgfsTer17
XM_011528011.1:c.314-1059dup	XP_011526313.1:n.314-1059dup
XR_244074.2:n.750dup
XM_011528010.2:c.600dup	XP_011526312.1:p.Glu201ArgfsTer17
XR_001753685.2:n.717dup
XR_001753686.2:n.717dup
NM_000527.5:c.600dup MANE Select	NP_000518.1:p.Glu201ArgfsTer17
NM_001195798.2:c.600dup	NP_001182727.1:p.Glu201ArgfsTer17
NM_001195799.2:c.477dup	NP_001182728.1:p.Glu160ArgfsTer17
NM_001195800.2:c.314-1886dup	NP_001182729.1:n.314-1886dup
NM_001195803.2:c.314-1059dup	NP_001182732.1:n.314-1059dup