Canonical Allele Identifier: CA2667222094

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993170-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993176dup , CM000665.2:g.121993176dup	GRCh38
NC_000003.11:g.121712023dup , CM000665.1:g.121712023dup	GRCh37
NC_000003.10:g.123194713dup	NCBI36
NG_031870.1:g.34110dup
NG_031870.2:g.72384dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1578dup MANE Select	ENSP00000345667.5:p.Gly527ArgfsTer14
ENST00000460554.2:n.1528dup
ENST00000642615.1:c.*761dup	ENSP00000495499.1:n.*761dup
ENST00000273691.7:c.1446dup	ENSP00000273691.3:p.Gly483ArgfsTer14
ENST00000344209.9:c.1578dup	ENSP00000345667.5:p.Gly527ArgfsTer14
ENST00000393631.5:c.1311dup	ENSP00000377251.1:p.Gly438ArgfsTer14
ENST00000460554.1:n.1680dup
ENST00000462014.1:c.1482dup	ENSP00000419414.1:p.Gly495ArgfsTer14
NM_001199799.1:c.1578dup	NP_001186728.1:p.Gly527ArgfsTer14
NM_001199800.1:c.1311dup	NP_001186729.1:p.Gly438ArgfsTer14
NM_175924.3:c.1446dup	NP_787120.1:p.Gly483ArgfsTer14
XM_005247389.3:c.1482dup	XP_005247446.1:p.Gly495ArgfsTer14
XM_011512738.1:c.1558+20dup	XP_011511040.1:n.1558+20dup
XM_011512739.1:c.1041dup	XP_011511041.1:p.Gly348ArgfsTer14
XM_005247389.4:c.1482dup	XP_005247446.1:p.Gly495ArgfsTer14
XM_011512738.2:c.1558+20dup	XP_011511040.1:n.1558+20dup
XM_011512739.2:c.1041dup	XP_011511041.1:p.Gly348ArgfsTer14
NM_001199799.2:c.1578dup MANE Select	NP_001186728.1:p.Gly527ArgfsTer14
NM_001199800.2:c.1311dup	NP_001186729.1:p.Gly438ArgfsTer14
NM_175924.4:c.1446dup	NP_787120.1:p.Gly483ArgfsTer14