Canonical Allele Identifier: CA1397750804

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993391_121993392delinsCG , CM000665.2:g.121993391_121993392delinsCG	GRCh38
NC_000003.11:g.121712238_121712239delinsCG , CM000665.1:g.121712238_121712239delinsCG	GRCh37
NC_000003.10:g.123194928_123194929delinsCG	NCBI36
NG_031870.1:g.33889_33890delinsCG
NG_031870.2:g.72163_72164delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1357_1358delinsCG MANE Select	ENSP00000345667.5:p.Arg453=
ENST00000460554.2:n.1307_1308delinsCG
ENST00000642615.1:c.*540_*541delinsCG	ENSP00000495499.1:n.*540_*541delinsCG
ENST00000273691.7:c.1225_1226delinsCG	ENSP00000273691.3:p.Arg409=
ENST00000344209.9:c.1357_1358delinsCG	ENSP00000345667.5:p.Arg453=
ENST00000393631.5:c.1090_1091delinsCG	ENSP00000377251.1:p.Arg364=
ENST00000460554.1:n.1459_1460delinsCG
ENST00000462014.1:c.1261_1262delinsCG	ENSP00000419414.1:p.Arg421=
NM_001199799.1:c.1357_1358delinsCG	NP_001186728.1:p.Arg453=
NM_001199800.1:c.1090_1091delinsCG	NP_001186729.1:p.Arg364=
NM_175924.3:c.1225_1226delinsCG	NP_787120.1:p.Arg409=
XM_005247389.3:c.1261_1262delinsCG	XP_005247446.1:p.Arg421=
XM_011512738.1:c.1357_1358delinsCG	XP_011511040.1:p.Arg453=
XM_011512739.1:c.820_821delinsCG	XP_011511041.1:p.Arg274=
XM_005247389.4:c.1261_1262delinsCG	XP_005247446.1:p.Arg421=
XM_011512738.2:c.1357_1358delinsCG	XP_011511040.1:p.Arg453=
XM_011512739.2:c.820_821delinsCG	XP_011511041.1:p.Arg274=
NM_001199799.2:c.1357_1358delinsCG MANE Select	NP_001186728.1:p.Arg453=
NM_001199800.2:c.1090_1091delinsCG	NP_001186729.1:p.Arg364=
NM_175924.4:c.1225_1226delinsCG	NP_787120.1:p.Arg409=