Canonical Allele Identifier: CA2568652

Gene: ILDR1

Linked Data

• dbSNP Id: rs781450878
• ExAC: 3:121712104 C / CG
• gnomAD v2: 3-121712104-C-CG
• gnomAD v4: 3-121993257-C-CG
• MyVariant Identifiers: chr3:g.121712104_121712105insG (hg19) ; chr3:g.121993257_121993258insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993258dup , CM000665.2:g.121993258dup	GRCh38
NC_000003.11:g.121712105dup , CM000665.1:g.121712105dup	GRCh37
NC_000003.10:g.123194795dup	NCBI36
NG_031870.1:g.34023dup
NG_031870.2:g.72297dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1491dup MANE Select	ENSP00000345667.5:p.Gly498ArgfsTer14
ENST00000460554.2:n.1441dup
ENST00000642615.1:c.*674dup	ENSP00000495499.1:n.*674dup
ENST00000273691.7:c.1359dup	ENSP00000273691.3:p.Gly454ArgfsTer14
ENST00000344209.9:c.1491dup	ENSP00000345667.5:p.Gly498ArgfsTer14
ENST00000393631.5:c.1224dup	ENSP00000377251.1:p.Gly409ArgfsTer14
ENST00000460554.1:n.1593dup
ENST00000462014.1:c.1395dup	ENSP00000419414.1:p.Gly466ArgfsTer14
NM_001199799.1:c.1491dup	NP_001186728.1:p.Gly498ArgfsTer14
NM_001199800.1:c.1224dup	NP_001186729.1:p.Gly409ArgfsTer14
NM_175924.3:c.1359dup	NP_787120.1:p.Gly454ArgfsTer14
XM_005247389.3:c.1395dup	XP_005247446.1:p.Gly466ArgfsTer14
XM_011512738.1:c.1491dup	XP_011511040.1:p.Gly498ArgfsTer14
XM_011512739.1:c.954dup	XP_011511041.1:p.Gly319ArgfsTer14
XM_005247389.4:c.1395dup	XP_005247446.1:p.Gly466ArgfsTer14
XM_011512738.2:c.1491dup	XP_011511040.1:p.Gly498ArgfsTer14
XM_011512739.2:c.954dup	XP_011511041.1:p.Gly319ArgfsTer14
NM_001199799.2:c.1491dup MANE Select	NP_001186728.1:p.Gly498ArgfsTer14
NM_001199800.2:c.1224dup	NP_001186729.1:p.Gly409ArgfsTer14
NM_175924.4:c.1359dup	NP_787120.1:p.Gly454ArgfsTer14