Canonical Allele Identifier: CA2695228118

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113716del , CM000681.2:g.11113716del	GRCh38
NC_000019.9:g.11224392del , CM000681.1:g.11224392del	GRCh37
NC_000019.8:g.11085392del	NCBI36
NG_009060.1:g.29336del , LRG_274:g.29336del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1798del	ENSP00000252444.6:p.Glu600ArgfsTer?
ENST00000559340.2:c.1540del	ENSP00000453696.2:p.Glu514ArgfsTer?
ENST00000560467.2:c.1420del	ENSP00000453513.2:p.Glu474ArgfsTer?
ENST00000558518.6:c.1540del MANE Select	ENSP00000454071.1:p.Glu514ArgfsTer?
ENST00000252444.9:c.1794del
ENST00000455727.6:c.1036del	ENSP00000397829.2:p.Glu346ArgfsTer?
ENST00000535915.5:c.1417del	ENSP00000440520.1:p.Glu473ArgfsTer?
ENST00000545707.5:c.1159del	ENSP00000437639.1:p.Glu387ArgfsTer?
ENST00000557933.5:c.1540del	ENSP00000453557.1:p.Glu514ArgfsTer?
ENST00000558013.5:c.1540del	ENSP00000453346.1:p.Glu514ArgfsTer?
ENST00000558518.5:c.1540del	ENSP00000454071.1:p.Glu514ArgfsTer?
ENST00000559340.1:c.261del
NM_000527.4:c.1540del , LRG_274t1:c.1540del	NP_000518.1:p.Glu514ArgfsTer?
NM_001195798.1:c.1540del	NP_001182727.1:p.Glu514ArgfsTer?
NM_001195799.1:c.1417del	NP_001182728.1:p.Glu473ArgfsTer?
NM_001195800.1:c.1036del	NP_001182729.1:p.Glu346ArgfsTer?
NM_001195803.1:c.1159del	NP_001182732.1:p.Glu387ArgfsTer?
XM_011528010.1:c.1540del	XP_011526312.1:p.Glu514ArgfsTer?
XM_011528011.1:c.1159del	XP_011526313.1:p.Glu387ArgfsTer?
XR_244074.2:n.1690del
XM_011528010.2:c.1540del	XP_011526312.1:p.Glu514ArgfsTer?
XR_001753685.2:n.1657del
XR_001753686.2:n.1657del
NM_000527.5:c.1540del MANE Select	NP_000518.1:p.Glu514ArgfsTer?
NM_001195798.2:c.1540del	NP_001182727.1:p.Glu514ArgfsTer?
NM_001195799.2:c.1417del	NP_001182728.1:p.Glu473ArgfsTer?
NM_001195800.2:c.1036del	NP_001182729.1:p.Glu346ArgfsTer?
NM_001195803.2:c.1159del	NP_001182732.1:p.Glu387ArgfsTer?