Canonical Allele Identifier: CA2667222107

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993686-T-TGAGCCACTGCTGGTGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993690_121993708dup , CM000665.2:g.121993690_121993708dup	GRCh38
NC_000003.11:g.121712537_121712555dup , CM000665.1:g.121712537_121712555dup	GRCh37
NC_000003.10:g.123195227_123195245dup	NCBI36
NG_031870.1:g.33576_33594dup
NG_031870.2:g.71850_71868dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1044_1062dup MANE Select	ENSP00000345667.5:p.Thr355ProfsTer27
ENST00000460554.2:n.994_1012dup
ENST00000642615.1:c.*227_*245dup	ENSP00000495499.1:n.*227_*245dup
ENST00000273691.7:c.912_930dup	ENSP00000273691.3:p.Thr311ProfsTer27
ENST00000344209.9:c.1044_1062dup	ENSP00000345667.5:p.Thr355ProfsTer27
ENST00000393631.5:c.777_795dup	ENSP00000377251.1:p.Thr266ProfsTer27
ENST00000460554.1:n.1146_1164dup
ENST00000462014.1:c.948_966dup	ENSP00000419414.1:p.Thr323ProfsTer27
NM_001199799.1:c.1044_1062dup	NP_001186728.1:p.Thr355ProfsTer27
NM_001199800.1:c.777_795dup	NP_001186729.1:p.Thr266ProfsTer27
NM_175924.3:c.912_930dup	NP_787120.1:p.Thr311ProfsTer27
XM_005247389.3:c.948_966dup	XP_005247446.1:p.Thr323ProfsTer27
XM_011512738.1:c.1044_1062dup	XP_011511040.1:p.Thr355ProfsTer27
XM_011512739.1:c.507_525dup	XP_011511041.1:p.Thr176ProfsTer27
XM_005247389.4:c.948_966dup	XP_005247446.1:p.Thr323ProfsTer27
XM_011512738.2:c.1044_1062dup	XP_011511040.1:p.Thr355ProfsTer27
XM_011512739.2:c.507_525dup	XP_011511041.1:p.Thr176ProfsTer27
NM_001199799.2:c.1044_1062dup MANE Select	NP_001186728.1:p.Thr355ProfsTer27
NM_001199800.2:c.777_795dup	NP_001186729.1:p.Thr266ProfsTer27
NM_175924.4:c.912_930dup	NP_787120.1:p.Thr311ProfsTer27