Canonical Allele Identifier: CA2695223196

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105314del , CM000681.2:g.11105314del	GRCh38
NC_000019.9:g.11215990del , CM000681.1:g.11215990del	GRCh37
NC_000019.8:g.11076990del	NCBI36
NG_009060.1:g.20934del , LRG_274:g.20934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.666del	ENSP00000252444.6:p.Asp222GlufsTer?
ENST00000559340.2:c.408del	ENSP00000453696.2:p.Asp136GlufsTer?
ENST00000560467.2:c.408del	ENSP00000453513.2:p.Asp136GlufsTer?
ENST00000558518.6:c.408del MANE Select	ENSP00000454071.1:p.Asp136GlufsTer?
ENST00000252444.9:c.662del
ENST00000455727.6:c.314-2078del	ENSP00000397829.2:n.314-2078del
ENST00000535915.5:c.285del	ENSP00000440520.1:p.Asp95GlufsTer?
ENST00000545707.5:c.314-1251del	ENSP00000437639.1:n.314-1251del
ENST00000557933.5:c.408del	ENSP00000453557.1:p.Asp136GlufsTer?
ENST00000558013.5:c.408del	ENSP00000453346.1:p.Asp136GlufsTer?
ENST00000558518.5:c.408del	ENSP00000454071.1:p.Asp136GlufsTer?
ENST00000560467.1:c.8del
NM_000527.4:c.408del , LRG_274t1:c.408del	NP_000518.1:p.Asp136GlufsTer?
NM_001195798.1:c.408del	NP_001182727.1:p.Asp136GlufsTer?
NM_001195799.1:c.285del	NP_001182728.1:p.Asp95GlufsTer?
NM_001195800.1:c.314-2078del	NP_001182729.1:n.314-2078del
NM_001195803.1:c.314-1251del	NP_001182732.1:n.314-1251del
XM_011528010.1:c.408del	XP_011526312.1:p.Asp136GlufsTer?
XM_011528011.1:c.314-1251del	XP_011526313.1:n.314-1251del
XR_244074.2:n.558del
XM_011528010.2:c.408del	XP_011526312.1:p.Asp136GlufsTer?
XR_001753685.2:n.525del
XR_001753686.2:n.525del
NM_000527.5:c.408del MANE Select	NP_000518.1:p.Asp136GlufsTer?
NM_001195798.2:c.408del	NP_001182727.1:p.Asp136GlufsTer?
NM_001195799.2:c.285del	NP_001182728.1:p.Asp95GlufsTer?
NM_001195800.2:c.314-2078del	NP_001182729.1:n.314-2078del
NM_001195803.2:c.314-1251del	NP_001182732.1:n.314-1251del