Canonical Allele Identifier: CA2695228116

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113674del , CM000681.2:g.11113674del	GRCh38
NC_000019.9:g.11224350del , CM000681.1:g.11224350del	GRCh37
NC_000019.8:g.11085350del	NCBI36
NG_009060.1:g.29294del , LRG_274:g.29294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1756del	ENSP00000252444.6:p.Val586LeufsTer7
ENST00000559340.2:c.1498del	ENSP00000453696.2:p.Val500LeufsTer7
ENST00000560467.2:c.1378del	ENSP00000453513.2:p.Val460LeufsTer7
ENST00000558518.6:c.1498del MANE Select	ENSP00000454071.1:p.Val500LeufsTer7
ENST00000252444.9:c.1752del
ENST00000455727.6:c.994del	ENSP00000397829.2:p.Val332LeufsTer7
ENST00000535915.5:c.1375del	ENSP00000440520.1:p.Val459LeufsTer7
ENST00000545707.5:c.1117del	ENSP00000437639.1:p.Val373LeufsTer7
ENST00000557933.5:c.1498del	ENSP00000453557.1:p.Val500LeufsTer7
ENST00000558013.5:c.1498del	ENSP00000453346.1:p.Val500LeufsTer7
ENST00000558518.5:c.1498del	ENSP00000454071.1:p.Val500LeufsTer7
ENST00000559340.1:c.219del
NM_000527.4:c.1498del , LRG_274t1:c.1498del	NP_000518.1:p.Val500LeufsTer7
NM_001195798.1:c.1498del	NP_001182727.1:p.Val500LeufsTer7
NM_001195799.1:c.1375del	NP_001182728.1:p.Val459LeufsTer7
NM_001195800.1:c.994del	NP_001182729.1:p.Val332LeufsTer7
NM_001195803.1:c.1117del	NP_001182732.1:p.Val373LeufsTer7
XM_011528010.1:c.1498del	XP_011526312.1:p.Val500LeufsTer7
XM_011528011.1:c.1117del	XP_011526313.1:p.Val373LeufsTer7
XR_244074.2:n.1648del
XM_011528010.2:c.1498del	XP_011526312.1:p.Val500LeufsTer7
XR_001753685.2:n.1615del
XR_001753686.2:n.1615del
NM_000527.5:c.1498del MANE Select	NP_000518.1:p.Val500LeufsTer7
NM_001195798.2:c.1498del	NP_001182727.1:p.Val500LeufsTer7
NM_001195799.2:c.1375del	NP_001182728.1:p.Val459LeufsTer7
NM_001195800.2:c.994del	NP_001182729.1:p.Val332LeufsTer7
NM_001195803.2:c.1117del	NP_001182732.1:p.Val373LeufsTer7