Canonical Allele Identifier: CA916081227

Gene: LDLR

Linked Data

• ClinVar Variation Id: 841728
• ClinVar RCV Id: RCV001044006
• dbSNP Id: rs2077272442

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105375_11105376dup , CM000681.2:g.11105375_11105376dup	GRCh38
NC_000019.9:g.11216051_11216052dup , CM000681.1:g.11216051_11216052dup	GRCh37
NC_000019.8:g.11077051_11077052dup	NCBI36
NG_009060.1:g.20995_20996dup , LRG_274:g.20995_20996dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.727_728dup	ENSP00000252444.6:p.Ser243ArgfsTer?
ENST00000559340.2:c.469_470dup	ENSP00000453696.2:p.Ser157ArgfsTer?
ENST00000560467.2:c.469_470dup	ENSP00000453513.2:p.Ser157ArgfsTer?
ENST00000558518.6:c.469_470dup MANE Select	ENSP00000454071.1:p.Ser157ArgfsTer?
ENST00000252444.9:c.723_724dup
ENST00000455727.6:c.314-2017_314-2016dup	ENSP00000397829.2:n.314-2017_314-2016dup
ENST00000535915.5:c.346_347dup	ENSP00000440520.1:p.Ser116ArgfsTer?
ENST00000545707.5:c.314-1190_314-1189dup	ENSP00000437639.1:n.314-1190_314-1189dup
ENST00000557933.5:c.469_470dup	ENSP00000453557.1:p.Ser157ArgfsTer?
ENST00000558013.5:c.469_470dup	ENSP00000453346.1:p.Ser157ArgfsTer?
ENST00000558518.5:c.469_470dup	ENSP00000454071.1:p.Ser157ArgfsTer?
ENST00000560467.1:c.69_70dup
NM_000527.4:c.469_470dup , LRG_274t1:c.469_470dup	NP_000518.1:p.Ser157ArgfsTer?
NM_001195798.1:c.469_470dup	NP_001182727.1:p.Ser157ArgfsTer?
NM_001195799.1:c.346_347dup	NP_001182728.1:p.Ser116ArgfsTer?
NM_001195800.1:c.314-2017_314-2016dup	NP_001182729.1:n.314-2017_314-2016dup
NM_001195803.1:c.314-1190_314-1189dup	NP_001182732.1:n.314-1190_314-1189dup
XM_011528010.1:c.469_470dup	XP_011526312.1:p.Ser157ArgfsTer?
XM_011528011.1:c.314-1190_314-1189dup	XP_011526313.1:n.314-1190_314-1189dup
XR_244074.2:n.619_620dup
XM_011528010.2:c.469_470dup	XP_011526312.1:p.Ser157ArgfsTer?
XR_001753685.2:n.586_587dup
XR_001753686.2:n.586_587dup
NM_000527.5:c.469_470dup MANE Select	NP_000518.1:p.Ser157ArgfsTer?
NM_001195798.2:c.469_470dup	NP_001182727.1:p.Ser157ArgfsTer?
NM_001195799.2:c.346_347dup	NP_001182728.1:p.Ser116ArgfsTer?
NM_001195800.2:c.314-2017_314-2016dup	NP_001182729.1:n.314-2017_314-2016dup
NM_001195803.2:c.314-1190_314-1189dup	NP_001182732.1:n.314-1190_314-1189dup