Canonical Allele Identifier: CA1397750891

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993568_121993569delinsTC , CM000665.2:g.121993568_121993569delinsTC	GRCh38
NC_000003.11:g.121712415_121712416delinsTC , CM000665.1:g.121712415_121712416delinsTC	GRCh37
NC_000003.10:g.123195105_123195106delinsTC	NCBI36
NG_031870.1:g.33712_33713delinsGA
NG_031870.2:g.71986_71987delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1180_1181delinsGA MANE Select	ENSP00000345667.5:p.Glu394=
ENST00000460554.2:n.1130_1131delinsGA
ENST00000642615.1:c.*363_*364delinsGA	ENSP00000495499.1:n.*363_*364delinsGA
ENST00000273691.7:c.1048_1049delinsGA	ENSP00000273691.3:p.Glu350=
ENST00000344209.9:c.1180_1181delinsGA	ENSP00000345667.5:p.Glu394=
ENST00000393631.5:c.913_914delinsGA	ENSP00000377251.1:p.Glu305=
ENST00000460554.1:n.1282_1283delinsGA
ENST00000462014.1:c.1084_1085delinsGA	ENSP00000419414.1:p.Glu362=
NM_001199799.1:c.1180_1181delinsGA	NP_001186728.1:p.Glu394=
NM_001199800.1:c.913_914delinsGA	NP_001186729.1:p.Glu305=
NM_175924.3:c.1048_1049delinsGA	NP_787120.1:p.Glu350=
XM_005247389.3:c.1084_1085delinsGA	XP_005247446.1:p.Glu362=
XM_011512738.1:c.1180_1181delinsGA	XP_011511040.1:p.Glu394=
XM_011512739.1:c.643_644delinsGA	XP_011511041.1:p.Glu215=
XM_005247389.4:c.1084_1085delinsGA	XP_005247446.1:p.Glu362=
XM_011512738.2:c.1180_1181delinsGA	XP_011511040.1:p.Glu394=
XM_011512739.2:c.643_644delinsGA	XP_011511041.1:p.Glu215=
NM_001199799.2:c.1180_1181delinsGA MANE Select	NP_001186728.1:p.Glu394=
NM_001199800.2:c.913_914delinsGA	NP_001186729.1:p.Glu305=
NM_175924.4:c.1048_1049delinsGA	NP_787120.1:p.Glu350=