Canonical Allele Identifier: CA2573050565

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102708del , CM000681.2:g.11102708del	GRCh38
NC_000019.9:g.11213384del , CM000681.1:g.11213384del	GRCh37
NC_000019.8:g.11074384del	NCBI36
NG_009060.1:g.18328del , LRG_274:g.18328del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.493del	ENSP00000252444.6:p.Val165SerfsTer?
ENST00000559340.2:c.235del	ENSP00000453696.2:p.Val79SerfsTer?
ENST00000560467.2:c.235del	ENSP00000453513.2:p.Val79SerfsTer?
ENST00000558518.6:c.235del MANE Select	ENSP00000454071.1:p.Val79SerfsTer?
ENST00000252444.9:c.489del
ENST00000455727.6:c.235del	ENSP00000397829.2:p.Val79SerfsTer27
ENST00000535915.5:c.190+2363del	ENSP00000440520.1:n.190+2363del
ENST00000545707.5:c.235del	ENSP00000437639.1:p.Val79SerfsTer?
ENST00000557933.5:c.235del	ENSP00000453557.1:p.Val79SerfsTer?
ENST00000557958.1:n.321del
ENST00000558013.5:c.235del	ENSP00000453346.1:p.Val79SerfsTer?
ENST00000558518.5:c.235del	ENSP00000454071.1:p.Val79SerfsTer?
NM_000527.4:c.235del , LRG_274t1:c.235del	NP_000518.1:p.Val79SerfsTer?
NM_001195798.1:c.235del	NP_001182727.1:p.Val79SerfsTer?
NM_001195799.1:c.190+2363del	NP_001182728.1:n.190+2363del
NM_001195800.1:c.235del	NP_001182729.1:p.Val79SerfsTer27
NM_001195803.1:c.235del	NP_001182732.1:p.Val79SerfsTer?
XM_011528010.1:c.235del	XP_011526312.1:p.Val79SerfsTer?
XM_011528011.1:c.235del	XP_011526313.1:p.Val79SerfsTer?
XR_244074.2:n.385del
XM_011528010.2:c.235del	XP_011526312.1:p.Val79SerfsTer?
XR_001753685.2:n.352del
XR_001753686.2:n.352del
NM_000527.5:c.235del MANE Select	NP_000518.1:p.Val79SerfsTer?
NM_001195798.2:c.235del	NP_001182727.1:p.Val79SerfsTer?
NM_001195799.2:c.190+2363del	NP_001182728.1:n.190+2363del
NM_001195800.2:c.235del	NP_001182729.1:p.Val79SerfsTer27
NM_001195803.2:c.235del	NP_001182732.1:p.Val79SerfsTer?