Canonical Allele Identifier: CA2667222103

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993355-T-TGCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993356_121993360dup , CM000665.2:g.121993356_121993360dup	GRCh38
NC_000003.11:g.121712203_121712207dup , CM000665.1:g.121712203_121712207dup	GRCh37
NC_000003.10:g.123194893_123194897dup	NCBI36
NG_031870.1:g.33921_33925dup
NG_031870.2:g.72195_72199dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.1389_1393dup MANE Select	ENSP00000345667.5:p.His465ProfsTer?
ENST00000460554.2:n.1339_1343dup
ENST00000642615.1:c.*572_*576dup	ENSP00000495499.1:n.*572_*576dup
ENST00000273691.7:c.1257_1261dup	ENSP00000273691.3:p.His421ProfsTer?
ENST00000344209.9:c.1389_1393dup	ENSP00000345667.5:p.His465ProfsTer?
ENST00000393631.5:c.1122_1126dup	ENSP00000377251.1:p.His376ProfsTer?
ENST00000460554.1:n.1491_1495dup
ENST00000462014.1:c.1293_1297dup	ENSP00000419414.1:p.His433ProfsTer?
NM_001199799.1:c.1389_1393dup	NP_001186728.1:p.His465ProfsTer?
NM_001199800.1:c.1122_1126dup	NP_001186729.1:p.His376ProfsTer?
NM_175924.3:c.1257_1261dup	NP_787120.1:p.His421ProfsTer?
XM_005247389.3:c.1293_1297dup	XP_005247446.1:p.His433ProfsTer?
XM_011512738.1:c.1389_1393dup	XP_011511040.1:p.His465ProfsTer?
XM_011512739.1:c.852_856dup	XP_011511041.1:p.His286ProfsTer?
XM_005247389.4:c.1293_1297dup	XP_005247446.1:p.His433ProfsTer?
XM_011512738.2:c.1389_1393dup	XP_011511040.1:p.His465ProfsTer?
XM_011512739.2:c.852_856dup	XP_011511041.1:p.His286ProfsTer?
NM_001199799.2:c.1389_1393dup MANE Select	NP_001186728.1:p.His465ProfsTer?
NM_001199800.2:c.1122_1126dup	NP_001186729.1:p.His376ProfsTer?
NM_175924.4:c.1257_1261dup	NP_787120.1:p.His421ProfsTer?