Canonical Allele Identifier: CA2497030034

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113368del , CM000681.2:g.11113368del	GRCh38
NC_000019.9:g.11224044del , CM000681.1:g.11224044del	GRCh37
NC_000019.8:g.11085044del	NCBI36
NG_009060.1:g.28988del , LRG_274:g.28988del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1535del	ENSP00000252444.6:p.Leu512ArgfsTer25
ENST00000559340.2:c.1277del	ENSP00000453696.2:p.Leu426ArgfsTer25
ENST00000560467.2:c.1157del	ENSP00000453513.2:p.Leu386ArgfsTer25
ENST00000558518.6:c.1277del MANE Select	ENSP00000454071.1:p.Leu426ArgfsTer25
ENST00000252444.9:c.1531del
ENST00000455727.6:c.773del	ENSP00000397829.2:p.Leu258ArgfsTer25
ENST00000535915.5:c.1154del	ENSP00000440520.1:p.Leu385ArgfsTer25
ENST00000545707.5:c.896del	ENSP00000437639.1:p.Leu299ArgfsTer25
ENST00000557933.5:c.1277del	ENSP00000453557.1:p.Leu426ArgfsTer25
ENST00000558013.5:c.1277del	ENSP00000453346.1:p.Leu426ArgfsTer25
ENST00000558518.5:c.1277del	ENSP00000454071.1:p.Leu426ArgfsTer25
ENST00000560173.1:n.276del
ENST00000560467.1:c.757del
NM_000527.4:c.1277del , LRG_274t1:c.1277del	NP_000518.1:p.Leu426ArgfsTer25
NM_001195798.1:c.1277del	NP_001182727.1:p.Leu426ArgfsTer25
NM_001195799.1:c.1154del	NP_001182728.1:p.Leu385ArgfsTer25
NM_001195800.1:c.773del	NP_001182729.1:p.Leu258ArgfsTer25
NM_001195803.1:c.896del	NP_001182732.1:p.Leu299ArgfsTer25
XM_011528010.1:c.1277del	XP_011526312.1:p.Leu426ArgfsTer25
XM_011528011.1:c.896del	XP_011526313.1:p.Leu299ArgfsTer25
XR_244074.2:n.1427del
XM_011528010.2:c.1277del	XP_011526312.1:p.Leu426ArgfsTer25
XR_001753685.2:n.1394del
XR_001753686.2:n.1394del
NM_000527.5:c.1277del MANE Select	NP_000518.1:p.Leu426ArgfsTer25
NM_001195798.2:c.1277del	NP_001182727.1:p.Leu426ArgfsTer25
NM_001195799.2:c.1154del	NP_001182728.1:p.Leu385ArgfsTer25
NM_001195800.2:c.773del	NP_001182729.1:p.Leu258ArgfsTer25
NM_001195803.2:c.896del	NP_001182732.1:p.Leu299ArgfsTer25