Canonical Allele Identifier: CA2573050590

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110766_11110776del , CM000681.2:g.11110766_11110776del	GRCh38
NC_000019.9:g.11221442_11221452del , CM000681.1:g.11221442_11221452del	GRCh37
NC_000019.8:g.11082442_11082452del	NCBI36
NG_009060.1:g.26386_26396del , LRG_274:g.26386_26396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1313_1318+5del
ENST00000559340.2:c.1055_1060+5del
ENST00000560467.2:c.941-748_941-738del	ENSP00000453513.2:n.941-748_941-738del
ENST00000558518.6:c.1055_1060+5del
ENST00000252444.9:c.1309_1314+5del
ENST00000455727.6:c.551_556+5del
ENST00000535915.5:c.932_937+5del
ENST00000545707.5:c.674_679+5del
ENST00000557933.5:c.1055_1060+5del
ENST00000558013.5:c.1055_1060+5del
ENST00000558518.5:c.1055_1060+5del
ENST00000560173.1:n.54_59+5del
ENST00000560467.1:c.541-748_541-738del
NM_000527.4:c.1055_1060+5del , LRG_274t1:c.1055_1060+5del
NM_001195798.1:c.1055_1060+5del
NM_001195799.1:c.932_937+5del
NM_001195800.1:c.551_556+5del
NM_001195803.1:c.674_679+5del
XM_011528010.1:c.1055_1060+5del
XM_011528011.1:c.674_679+5del
XR_244074.2:n.1205_1210+5del
XM_011528010.2:c.1055_1060+5del
XR_001753685.2:n.1172_1177+5del
XR_001753686.2:n.1172_1177+5del
NM_000527.5:c.1055_1060+5del
NM_001195798.2:c.1055_1060+5del
NM_001195799.2:c.932_937+5del
NM_001195800.2:c.551_556+5del
NM_001195803.2:c.674_679+5del