Canonical Allele Identifier: CA2695238658

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123274del , CM000681.2:g.11123274del	GRCh38
NC_000019.9:g.11233950del , CM000681.1:g.11233950del	GRCh37
NC_000019.8:g.11094950del	NCBI36
NG_009060.1:g.38894del , LRG_274:g.38894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2499del	ENSP00000252444.6:p.Asp834ThrfsTer17
ENST00000559340.2:c.*310del	ENSP00000453696.2:n.*310del
ENST00000560467.2:c.2121del	ENSP00000453513.2:p.Asp708ThrfsTer17
ENST00000558518.6:c.2241del MANE Select	ENSP00000454071.1:p.Asp748ThrfsTer17
ENST00000252444.9:c.2495del
ENST00000455727.6:c.1737del	ENSP00000397829.2:p.Asp580ThrfsTer17
ENST00000535915.5:c.2118del	ENSP00000440520.1:p.Asp707ThrfsTer17
ENST00000545707.5:c.1707del	ENSP00000437639.1:p.Asp570ThrfsTer17
ENST00000557933.5:c.2241del	ENSP00000453557.1:p.Asp748ThrfsTer17
ENST00000558013.5:c.2241del	ENSP00000453346.1:p.Asp748ThrfsTer17
ENST00000558518.5:c.2241del	ENSP00000454071.1:p.Asp748ThrfsTer17
NM_000527.4:c.2241del , LRG_274t1:c.2241del	NP_000518.1:p.Asp748ThrfsTer17
NM_001195798.1:c.2241del	NP_001182727.1:p.Asp748ThrfsTer17
NM_001195799.1:c.2118del	NP_001182728.1:p.Asp707ThrfsTer17
NM_001195800.1:c.1737del	NP_001182729.1:p.Asp580ThrfsTer17
NM_001195803.1:c.1707del	NP_001182732.1:p.Asp570ThrfsTer17
XM_011528010.1:c.2241del	XP_011526312.1:p.Asp748ThrfsTer17
XM_011528011.1:c.1860del	XP_011526313.1:p.Asp621ThrfsTer17
XR_244074.2:n.2251del
XM_011528010.2:c.2241del	XP_011526312.1:p.Asp748ThrfsTer17
XR_001753685.2:n.2575del
XR_001753686.2:n.2218del
NM_000527.5:c.2241del MANE Select	NP_000518.1:p.Asp748ThrfsTer17
NM_001195798.2:c.2241del	NP_001182727.1:p.Asp748ThrfsTer17
NM_001195799.2:c.2118del	NP_001182728.1:p.Asp707ThrfsTer17
NM_001195800.2:c.1737del	NP_001182729.1:p.Asp580ThrfsTer17
NM_001195803.2:c.1707del	NP_001182732.1:p.Asp570ThrfsTer17