Canonical Allele Identifier: CA1397750734

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993259_121993260delinsCG , CM000665.2:g.121993259_121993260delinsCG	GRCh38
NC_000003.11:g.121712106_121712107delinsCG , CM000665.1:g.121712106_121712107delinsCG	GRCh37
NC_000003.10:g.123194796_123194797delinsCG	NCBI36
NG_031870.1:g.34021_34022delinsCG
NG_031870.2:g.72295_72296delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1489_1490delinsCG MANE Select	ENSP00000345667.5:p.Arg497=
ENST00000460554.2:n.1439_1440delinsCG
ENST00000642615.1:c.*672_*673delinsCG	ENSP00000495499.1:n.*672_*673delinsCG
ENST00000273691.7:c.1357_1358delinsCG	ENSP00000273691.3:p.Arg453=
ENST00000344209.9:c.1489_1490delinsCG	ENSP00000345667.5:p.Arg497=
ENST00000393631.5:c.1222_1223delinsCG	ENSP00000377251.1:p.Arg408=
ENST00000460554.1:n.1591_1592delinsCG
ENST00000462014.1:c.1393_1394delinsCG	ENSP00000419414.1:p.Arg465=
NM_001199799.1:c.1489_1490delinsCG	NP_001186728.1:p.Arg497=
NM_001199800.1:c.1222_1223delinsCG	NP_001186729.1:p.Arg408=
NM_175924.3:c.1357_1358delinsCG	NP_787120.1:p.Arg453=
XM_005247389.3:c.1393_1394delinsCG	XP_005247446.1:p.Arg465=
XM_011512738.1:c.1489_1490delinsCG	XP_011511040.1:p.Arg497=
XM_011512739.1:c.952_953delinsCG	XP_011511041.1:p.Arg318=
XM_005247389.4:c.1393_1394delinsCG	XP_005247446.1:p.Arg465=
XM_011512738.2:c.1489_1490delinsCG	XP_011511040.1:p.Arg497=
XM_011512739.2:c.952_953delinsCG	XP_011511041.1:p.Arg318=
NM_001199799.2:c.1489_1490delinsCG MANE Select	NP_001186728.1:p.Arg497=
NM_001199800.2:c.1222_1223delinsCG	NP_001186729.1:p.Arg408=
NM_175924.4:c.1357_1358delinsCG	NP_787120.1:p.Arg453=