Canonical Allele Identifier: CA1397750789

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993368_121993369delinsTC , CM000665.2:g.121993368_121993369delinsTC	GRCh38
NC_000003.11:g.121712215_121712216delinsTC , CM000665.1:g.121712215_121712216delinsTC	GRCh37
NC_000003.10:g.123194905_123194906delinsTC	NCBI36
NG_031870.1:g.33912_33913delinsGA
NG_031870.2:g.72186_72187delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1380_1381delinsGA MANE Select	ENSP00000345667.5:p.Gly460=
ENST00000460554.2:n.1330_1331delinsGA
ENST00000642615.1:c.*563_*564delinsGA	ENSP00000495499.1:n.*563_*564delinsGA
ENST00000273691.7:c.1248_1249delinsGA	ENSP00000273691.3:p.Gly416=
ENST00000344209.9:c.1380_1381delinsGA	ENSP00000345667.5:p.Gly460=
ENST00000393631.5:c.1113_1114delinsGA	ENSP00000377251.1:p.Gly371=
ENST00000460554.1:n.1482_1483delinsGA
ENST00000462014.1:c.1284_1285delinsGA	ENSP00000419414.1:p.Gly428=
NM_001199799.1:c.1380_1381delinsGA	NP_001186728.1:p.Gly460=
NM_001199800.1:c.1113_1114delinsGA	NP_001186729.1:p.Gly371=
NM_175924.3:c.1248_1249delinsGA	NP_787120.1:p.Gly416=
XM_005247389.3:c.1284_1285delinsGA	XP_005247446.1:p.Gly428=
XM_011512738.1:c.1380_1381delinsGA	XP_011511040.1:p.Gly460=
XM_011512739.1:c.843_844delinsGA	XP_011511041.1:p.Gly281=
XM_005247389.4:c.1284_1285delinsGA	XP_005247446.1:p.Gly428=
XM_011512738.2:c.1380_1381delinsGA	XP_011511040.1:p.Gly460=
XM_011512739.2:c.843_844delinsGA	XP_011511041.1:p.Gly281=
NM_001199799.2:c.1380_1381delinsGA MANE Select	NP_001186728.1:p.Gly460=
NM_001199800.2:c.1113_1114delinsGA	NP_001186729.1:p.Gly371=
NM_175924.4:c.1248_1249delinsGA	NP_787120.1:p.Gly416=