Canonical Allele Identifier: CA2322770306

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110764_11110772delinsATGCGAAGG , CM000681.2:g.11110764_11110772delinsATGCGAAGG	GRCh38
NC_000019.9:g.11221440_11221448delinsATGCGAAGG , CM000681.1:g.11221440_11221448delinsATGCGAAGG	GRCh37
NC_000019.8:g.11082440_11082448delinsATGCGAAGG	NCBI36
NG_009060.1:g.26384_26392delinsATGCGAAGG , LRG_274:g.26384_26392delinsATGCGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1311_1318+1delinsATGCGAAGG
ENST00000559340.2:c.1053_1060+1delinsATGCGAAGG
ENST00000560467.2:c.941-750_941-742delinsATGCGAAGG	ENSP00000453513.2:n.941-750_941-742delinsATGCGAAGG
ENST00000558518.6:c.1053_1060+1delinsATGCGAAGG
ENST00000252444.9:c.1307_1314+1delinsATGCGAAGG
ENST00000455727.6:c.549_556+1delinsATGCGAAGG
ENST00000535915.5:c.930_937+1delinsATGCGAAGG
ENST00000545707.5:c.672_679+1delinsATGCGAAGG
ENST00000557933.5:c.1053_1060+1delinsATGCGAAGG
ENST00000558013.5:c.1053_1060+1delinsATGCGAAGG
ENST00000558518.5:c.1053_1060+1delinsATGCGAAGG
ENST00000560173.1:n.52_59+1delinsATGCGAAGG
ENST00000560467.1:c.541-750_541-742delinsATGCGAAGG
NM_000527.4:c.1053_1060+1delinsATGCGAAGG , LRG_274t1:c.1053_1060+1delinsATGCGAAGG
NM_001195798.1:c.1053_1060+1delinsATGCGAAGG
NM_001195799.1:c.930_937+1delinsATGCGAAGG
NM_001195800.1:c.549_556+1delinsATGCGAAGG
NM_001195803.1:c.672_679+1delinsATGCGAAGG
XM_011528010.1:c.1053_1060+1delinsATGCGAAGG
XM_011528011.1:c.672_679+1delinsATGCGAAGG
XR_244074.2:n.1203_1210+1delinsATGCGAAGG
XM_011528010.2:c.1053_1060+1delinsATGCGAAGG
XR_001753685.2:n.1170_1177+1delinsATGCGAAGG
XR_001753686.2:n.1170_1177+1delinsATGCGAAGG
NM_000527.5:c.1053_1060+1delinsATGCGAAGG
NM_001195798.2:c.1053_1060+1delinsATGCGAAGG
NM_001195799.2:c.930_937+1delinsATGCGAAGG
NM_001195800.2:c.549_556+1delinsATGCGAAGG
NM_001195803.2:c.672_679+1delinsATGCGAAGG