Canonical Allele Identifier: CA2573050617

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120232del , CM000681.2:g.11120232del	GRCh38
NC_000019.9:g.11230908del , CM000681.1:g.11230908del	GRCh37
NC_000019.8:g.11091908del	NCBI36
NG_009060.1:g.35852del , LRG_274:g.35852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2244del	ENSP00000252444.6:p.Gly749GlufsTer2
ENST00000559340.2:c.*55del	ENSP00000453696.2:n.*55del
ENST00000560467.2:c.1866del	ENSP00000453513.2:p.Gly623GlufsTer2
ENST00000558518.6:c.1986del MANE Select	ENSP00000454071.1:p.Gly663GlufsTer2
ENST00000252444.9:c.2240del
ENST00000455727.6:c.1482del	ENSP00000397829.2:p.Gly495GlufsTer2
ENST00000535915.5:c.1863del	ENSP00000440520.1:p.Gly622GlufsTer2
ENST00000545707.5:c.1605del	ENSP00000437639.1:p.Glu536ArgfsTer16
ENST00000557933.5:c.1986del	ENSP00000453557.1:p.Gly663GlufsTer2
ENST00000558013.5:c.1986del	ENSP00000453346.1:p.Gly663GlufsTer2
ENST00000558518.5:c.1986del	ENSP00000454071.1:p.Gly663GlufsTer2
ENST00000559340.1:c.567del
NM_000527.4:c.1986del , LRG_274t1:c.1986del	NP_000518.1:p.Gly663GlufsTer2
NM_001195798.1:c.1986del	NP_001182727.1:p.Gly663GlufsTer2
NM_001195799.1:c.1863del	NP_001182728.1:p.Gly622GlufsTer2
NM_001195800.1:c.1482del	NP_001182729.1:p.Gly495GlufsTer2
NM_001195803.1:c.1605del	NP_001182732.1:p.Glu536ArgfsTer16
XM_011528010.1:c.1986del	XP_011526312.1:p.Gly663GlufsTer2
XM_011528011.1:c.1605del	XP_011526313.1:p.Gly536GlufsTer2
XR_244074.2:n.1996del
XM_011528010.2:c.1986del	XP_011526312.1:p.Gly663GlufsTer2
XR_001753685.2:n.2103del
XR_001753686.2:n.1963del
NM_000527.5:c.1986del MANE Select	NP_000518.1:p.Gly663GlufsTer2
NM_001195798.2:c.1986del	NP_001182727.1:p.Gly663GlufsTer2
NM_001195799.2:c.1863del	NP_001182728.1:p.Gly622GlufsTer2
NM_001195800.2:c.1482del	NP_001182729.1:p.Gly495GlufsTer2
NM_001195803.2:c.1605del	NP_001182732.1:p.Glu536ArgfsTer16