Canonical Allele Identifier: CA2582474262

Gene: LDLR

Linked Data

• gnomAD v4: 19-11110885-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110887_11110888del , CM000681.2:g.11110887_11110888del	GRCh38
NC_000019.9:g.11221563_11221564del , CM000681.1:g.11221563_11221564del	GRCh37
NC_000019.8:g.11082563_11082564del	NCBI36
NG_009060.1:g.26507_26508del , LRG_274:g.26507_26508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1318+116_1318+117del	ENSP00000252444.6:n.1318+116_1318+117del
ENST00000559340.2:c.1060+116_1060+117del	ENSP00000453696.2:n.1060+116_1060+117del
ENST00000560467.2:c.941-627_941-626del	ENSP00000453513.2:n.941-627_941-626del
ENST00000558518.6:c.1060+116_1060+117del MANE Select	ENSP00000454071.1:n.1060+116_1060+117del
ENST00000252444.9:c.1314+116_1314+117del
ENST00000455727.6:c.556+116_556+117del	ENSP00000397829.2:n.556+116_556+117del
ENST00000535915.5:c.937+116_937+117del	ENSP00000440520.1:n.937+116_937+117del
ENST00000545707.5:c.679+116_679+117del	ENSP00000437639.1:n.679+116_679+117del
ENST00000557933.5:c.1060+116_1060+117del	ENSP00000453557.1:n.1060+116_1060+117del
ENST00000558013.5:c.1060+116_1060+117del	ENSP00000453346.1:n.1060+116_1060+117del
ENST00000558518.5:c.1060+116_1060+117del	ENSP00000454071.1:n.1060+116_1060+117del
ENST00000560173.1:n.59+116_59+117del
ENST00000560467.1:c.541-627_541-626del
NM_000527.4:c.1060+116_1060+117del , LRG_274t1:c.1060+116_1060+117del	NP_000518.1:n.1060+116_1060+117del
NM_001195798.1:c.1060+116_1060+117del	NP_001182727.1:n.1060+116_1060+117del
NM_001195799.1:c.937+116_937+117del	NP_001182728.1:n.937+116_937+117del
NM_001195800.1:c.556+116_556+117del	NP_001182729.1:n.556+116_556+117del
NM_001195803.1:c.679+116_679+117del	NP_001182732.1:n.679+116_679+117del
XM_011528010.1:c.1060+116_1060+117del	XP_011526312.1:n.1060+116_1060+117del
XM_011528011.1:c.679+116_679+117del	XP_011526313.1:n.679+116_679+117del
XR_244074.2:n.1210+116_1210+117del
XM_011528010.2:c.1060+116_1060+117del	XP_011526312.1:n.1060+116_1060+117del
XR_001753685.2:n.1177+116_1177+117del
XR_001753686.2:n.1177+116_1177+117del
NM_000527.5:c.1060+116_1060+117del MANE Select	NP_000518.1:n.1060+116_1060+117del
NM_001195798.2:c.1060+116_1060+117del	NP_001182727.1:n.1060+116_1060+117del
NM_001195799.2:c.937+116_937+117del	NP_001182728.1:n.937+116_937+117del
NM_001195800.2:c.556+116_556+117del	NP_001182729.1:n.556+116_556+117del
NM_001195803.2:c.679+116_679+117del	NP_001182732.1:n.679+116_679+117del