Canonical Allele Identifier: CA2573050597

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113420del , CM000681.2:g.11113420del	GRCh38
NC_000019.9:g.11224096del , CM000681.1:g.11224096del	GRCh37
NC_000019.8:g.11085096del	NCBI36
NG_009060.1:g.29040del , LRG_274:g.29040del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1587del	ENSP00000252444.6:p.Trp529CysfsTer8
ENST00000559340.2:c.1329del	ENSP00000453696.2:p.Trp443CysfsTer8
ENST00000560467.2:c.1209del	ENSP00000453513.2:p.Trp403CysfsTer8
ENST00000558518.6:c.1329del MANE Select	ENSP00000454071.1:p.Trp443CysfsTer8
ENST00000252444.9:c.1583del
ENST00000455727.6:c.825del	ENSP00000397829.2:p.Trp275CysfsTer8
ENST00000535915.5:c.1206del	ENSP00000440520.1:p.Trp402CysfsTer8
ENST00000545707.5:c.948del	ENSP00000437639.1:p.Trp316CysfsTer8
ENST00000557933.5:c.1329del	ENSP00000453557.1:p.Trp443CysfsTer8
ENST00000558013.5:c.1329del	ENSP00000453346.1:p.Trp443CysfsTer8
ENST00000558518.5:c.1329del	ENSP00000454071.1:p.Trp443CysfsTer8
ENST00000559340.1:c.50del
ENST00000560173.1:n.328del
ENST00000560467.1:c.809del
NM_000527.4:c.1329del , LRG_274t1:c.1329del	NP_000518.1:p.Trp443CysfsTer8
NM_001195798.1:c.1329del	NP_001182727.1:p.Trp443CysfsTer8
NM_001195799.1:c.1206del	NP_001182728.1:p.Trp402CysfsTer8
NM_001195800.1:c.825del	NP_001182729.1:p.Trp275CysfsTer8
NM_001195803.1:c.948del	NP_001182732.1:p.Trp316CysfsTer8
XM_011528010.1:c.1329del	XP_011526312.1:p.Trp443CysfsTer8
XM_011528011.1:c.948del	XP_011526313.1:p.Trp316CysfsTer8
XR_244074.2:n.1479del
XM_011528010.2:c.1329del	XP_011526312.1:p.Trp443CysfsTer8
XR_001753685.2:n.1446del
XR_001753686.2:n.1446del
NM_000527.5:c.1329del MANE Select	NP_000518.1:p.Trp443CysfsTer8
NM_001195798.2:c.1329del	NP_001182727.1:p.Trp443CysfsTer8
NM_001195799.2:c.1206del	NP_001182728.1:p.Trp402CysfsTer8
NM_001195800.2:c.825del	NP_001182729.1:p.Trp275CysfsTer8
NM_001195803.2:c.948del	NP_001182732.1:p.Trp316CysfsTer8