Canonical Allele Identifier: CA2580610740

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110764_11110771del , CM000681.2:g.11110764_11110771del	GRCh38
NC_000019.9:g.11221440_11221447del , CM000681.1:g.11221440_11221447del	GRCh37
NC_000019.8:g.11082440_11082447del	NCBI36
NG_009060.1:g.26384_26391del , LRG_274:g.26384_26391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1311_1318del	ENSP00000252444.6:p.Cys438TyrfsTer3
ENST00000559340.2:c.1053_1060del	ENSP00000453696.2:p.Cys352TyrfsTer3
ENST00000560467.2:c.941-750_941-743del	ENSP00000453513.2:n.941-750_941-743del
ENST00000558518.6:c.1053_1060del MANE Select	ENSP00000454071.1:p.Cys352TyrfsTer3
ENST00000252444.9:c.1307_1314del
ENST00000455727.6:c.549_556del	ENSP00000397829.2:p.Cys184TyrfsTer3
ENST00000535915.5:c.930_937del	ENSP00000440520.1:p.Cys311TyrfsTer3
ENST00000545707.5:c.672_679del	ENSP00000437639.1:p.Cys225TyrfsTer3
ENST00000557933.5:c.1053_1060del	ENSP00000453557.1:p.Cys352TyrfsTer3
ENST00000558013.5:c.1053_1060del	ENSP00000453346.1:p.Cys352TyrfsTer3
ENST00000558518.5:c.1053_1060del	ENSP00000454071.1:p.Cys352TyrfsTer3
ENST00000560173.1:n.52_59del
ENST00000560467.1:c.541-750_541-743del
NM_000527.4:c.1053_1060del , LRG_274t1:c.1053_1060del	NP_000518.1:p.Cys352TyrfsTer3
NM_001195798.1:c.1053_1060del	NP_001182727.1:p.Cys352TyrfsTer3
NM_001195799.1:c.930_937del	NP_001182728.1:p.Cys311TyrfsTer3
NM_001195800.1:c.549_556del	NP_001182729.1:p.Cys184TyrfsTer3
NM_001195803.1:c.672_679del	NP_001182732.1:p.Cys225TyrfsTer3
XM_011528010.1:c.1053_1060del	XP_011526312.1:p.Cys352TyrfsTer3
XM_011528011.1:c.672_679del	XP_011526313.1:p.Cys225TyrfsTer3
XR_244074.2:n.1203_1210del
XM_011528010.2:c.1053_1060del	XP_011526312.1:p.Cys352TyrfsTer3
XR_001753685.2:n.1170_1177del
XR_001753686.2:n.1170_1177del
NM_000527.5:c.1053_1060del MANE Select	NP_000518.1:p.Cys352TyrfsTer3
NM_001195798.2:c.1053_1060del	NP_001182727.1:p.Cys352TyrfsTer3
NM_001195799.2:c.930_937del	NP_001182728.1:p.Cys311TyrfsTer3
NM_001195800.2:c.549_556del	NP_001182729.1:p.Cys184TyrfsTer3
NM_001195803.2:c.672_679del	NP_001182732.1:p.Cys225TyrfsTer3