Canonical Allele Identifier: CA2577869568

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993354-G-GTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993358_121993361dup , CM000665.2:g.121993358_121993361dup	GRCh38
NC_000003.11:g.121712205_121712208dup , CM000665.1:g.121712205_121712208dup	GRCh37
NC_000003.10:g.123194895_123194898dup	NCBI36
NG_031870.1:g.33923_33926dup
NG_031870.2:g.72197_72200dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.1391_1394dup MANE Select	ENSP00000345667.5:p.His465GlnfsTer19
ENST00000460554.2:n.1341_1344dup
ENST00000642615.1:c.*574_*577dup	ENSP00000495499.1:n.*574_*577dup
ENST00000273691.7:c.1259_1262dup	ENSP00000273691.3:p.His421GlnfsTer19
ENST00000344209.9:c.1391_1394dup	ENSP00000345667.5:p.His465GlnfsTer19
ENST00000393631.5:c.1124_1127dup	ENSP00000377251.1:p.His376GlnfsTer19
ENST00000460554.1:n.1493_1496dup
ENST00000462014.1:c.1295_1298dup	ENSP00000419414.1:p.His433GlnfsTer19
NM_001199799.1:c.1391_1394dup	NP_001186728.1:p.His465GlnfsTer19
NM_001199800.1:c.1124_1127dup	NP_001186729.1:p.His376GlnfsTer19
NM_175924.3:c.1259_1262dup	NP_787120.1:p.His421GlnfsTer19
XM_005247389.3:c.1295_1298dup	XP_005247446.1:p.His433GlnfsTer19
XM_011512738.1:c.1391_1394dup	XP_011511040.1:p.His465GlnfsTer19
XM_011512739.1:c.854_857dup	XP_011511041.1:p.His286GlnfsTer19
XM_005247389.4:c.1295_1298dup	XP_005247446.1:p.His433GlnfsTer19
XM_011512738.2:c.1391_1394dup	XP_011511040.1:p.His465GlnfsTer19
XM_011512739.2:c.854_857dup	XP_011511041.1:p.His286GlnfsTer19
NM_001199799.2:c.1391_1394dup MANE Select	NP_001186728.1:p.His465GlnfsTer19
NM_001199800.2:c.1124_1127dup	NP_001186729.1:p.His376GlnfsTer19
NM_175924.4:c.1259_1262dup	NP_787120.1:p.His421GlnfsTer19