Canonical Allele Identifier: CA1397750864

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993500_121993509delinsCTGACCAGTG , CM000665.2:g.121993500_121993509delinsCTGACCAGTG	GRCh38
NC_000003.11:g.121712347_121712356delinsCTGACCAGTG , CM000665.1:g.121712347_121712356delinsCTGACCAGTG	GRCh37
NC_000003.10:g.123195037_123195046delinsCTGACCAGTG	NCBI36
NG_031870.1:g.33772_33781delinsCACTGGTCAG
NG_031870.2:g.72046_72055delinsCACTGGTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1240_1249delinsCACTGGTCAG MANE Select	ENSP00000345667.5:p.His414=
ENST00000460554.2:n.1190_1199delinsCACTGGTCAG
ENST00000642615.1:c.*423_*432delinsCACTGGTCAG	ENSP00000495499.1:n.*423_*432delinsCACTGGTCAG
ENST00000273691.7:c.1108_1117delinsCACTGGTCAG	ENSP00000273691.3:p.His370=
ENST00000344209.9:c.1240_1249delinsCACTGGTCAG	ENSP00000345667.5:p.His414=
ENST00000393631.5:c.973_982delinsCACTGGTCAG	ENSP00000377251.1:p.His325=
ENST00000460554.1:n.1342_1351delinsCACTGGTCAG
ENST00000462014.1:c.1144_1153delinsCACTGGTCAG	ENSP00000419414.1:p.His382=
NM_001199799.1:c.1240_1249delinsCACTGGTCAG	NP_001186728.1:p.His414=
NM_001199800.1:c.973_982delinsCACTGGTCAG	NP_001186729.1:p.His325=
NM_175924.3:c.1108_1117delinsCACTGGTCAG	NP_787120.1:p.His370=
XM_005247389.3:c.1144_1153delinsCACTGGTCAG	XP_005247446.1:p.His382=
XM_011512738.1:c.1240_1249delinsCACTGGTCAG	XP_011511040.1:p.His414=
XM_011512739.1:c.703_712delinsCACTGGTCAG	XP_011511041.1:p.His235=
XM_005247389.4:c.1144_1153delinsCACTGGTCAG	XP_005247446.1:p.His382=
XM_011512738.2:c.1240_1249delinsCACTGGTCAG	XP_011511040.1:p.His414=
XM_011512739.2:c.703_712delinsCACTGGTCAG	XP_011511041.1:p.His235=
NM_001199799.2:c.1240_1249delinsCACTGGTCAG MANE Select	NP_001186728.1:p.His414=
NM_001199800.2:c.973_982delinsCACTGGTCAG	NP_001186729.1:p.His325=
NM_175924.4:c.1108_1117delinsCACTGGTCAG	NP_787120.1:p.His370=