Canonical Allele Identifier: CA2667222101

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993351-G-GCGGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993353_121993358dup , CM000665.2:g.121993353_121993358dup	GRCh38
NC_000003.11:g.121712200_121712205dup , CM000665.1:g.121712200_121712205dup	GRCh37
NC_000003.10:g.123194890_123194895dup	NCBI36
NG_031870.1:g.33924_33929dup
NG_031870.2:g.72198_72203dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1392_1397dup MANE Select	ENSP00000345667.5:p.Arg466_Ser467insHisArg
ENST00000460554.2:n.1342_1347dup
ENST00000642615.1:c.*575_*580dup	ENSP00000495499.1:n.*575_*580dup
ENST00000273691.7:c.1260_1265dup	ENSP00000273691.3:p.Arg422_Ser423insHisArg
ENST00000344209.9:c.1392_1397dup	ENSP00000345667.5:p.Arg466_Ser467insHisArg
ENST00000393631.5:c.1125_1130dup	ENSP00000377251.1:p.Arg377_Ser378insHisArg
ENST00000460554.1:n.1494_1499dup
ENST00000462014.1:c.1296_1301dup	ENSP00000419414.1:p.Arg434_Ser435insHisArg
NM_001199799.1:c.1392_1397dup	NP_001186728.1:p.Arg466_Ser467insHisArg
NM_001199800.1:c.1125_1130dup	NP_001186729.1:p.Arg377_Ser378insHisArg
NM_175924.3:c.1260_1265dup	NP_787120.1:p.Arg422_Ser423insHisArg
XM_005247389.3:c.1296_1301dup	XP_005247446.1:p.Arg434_Ser435insHisArg
XM_011512738.1:c.1392_1397dup	XP_011511040.1:p.Arg466_Ser467insHisArg
XM_011512739.1:c.855_860dup	XP_011511041.1:p.Arg287_Ser288insHisArg
XM_005247389.4:c.1296_1301dup	XP_005247446.1:p.Arg434_Ser435insHisArg
XM_011512738.2:c.1392_1397dup	XP_011511040.1:p.Arg466_Ser467insHisArg
XM_011512739.2:c.855_860dup	XP_011511041.1:p.Arg287_Ser288insHisArg
NM_001199799.2:c.1392_1397dup MANE Select	NP_001186728.1:p.Arg466_Ser467insHisArg
NM_001199800.2:c.1125_1130dup	NP_001186729.1:p.Arg377_Ser378insHisArg
NM_175924.4:c.1260_1265dup	NP_787120.1:p.Arg422_Ser423insHisArg