Canonical Allele Identifier: CA2840816958

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993420_121993421insG , CM000665.2:g.121993420_121993421insG	GRCh38
NC_000003.11:g.121712267_121712268insG , CM000665.1:g.121712267_121712268insG	GRCh37
NC_000003.10:g.123194957_123194958insG	NCBI36
NG_031870.1:g.33860_33861insC
NG_031870.2:g.72134_72135insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1328_1329insC MANE Select	ENSP00000345667.5:p.Gln444SerfsTer?
ENST00000460554.2:n.1278_1279insC
ENST00000642615.1:c.*511_*512insC	ENSP00000495499.1:n.*511_*512insC
ENST00000273691.7:c.1196_1197insC	ENSP00000273691.3:p.Gln400SerfsTer?
ENST00000344209.9:c.1328_1329insC	ENSP00000345667.5:p.Gln444SerfsTer?
ENST00000393631.5:c.1061_1062insC	ENSP00000377251.1:p.Gln355SerfsTer?
ENST00000460554.1:n.1430_1431insC
ENST00000462014.1:c.1232_1233insC	ENSP00000419414.1:p.Gln412SerfsTer?
NM_001199799.1:c.1328_1329insC	NP_001186728.1:p.Gln444SerfsTer?
NM_001199800.1:c.1061_1062insC	NP_001186729.1:p.Gln355SerfsTer?
NM_175924.3:c.1196_1197insC	NP_787120.1:p.Gln400SerfsTer?
XM_005247389.3:c.1232_1233insC	XP_005247446.1:p.Gln412SerfsTer?
XM_011512738.1:c.1328_1329insC	XP_011511040.1:p.Gln444SerfsTer?
XM_011512739.1:c.791_792insC	XP_011511041.1:p.Gln265SerfsTer?
XM_005247389.4:c.1232_1233insC	XP_005247446.1:p.Gln412SerfsTer?
XM_011512738.2:c.1328_1329insC	XP_011511040.1:p.Gln444SerfsTer?
XM_011512739.2:c.791_792insC	XP_011511041.1:p.Gln265SerfsTer?
NM_001199799.2:c.1328_1329insC MANE Select	NP_001186728.1:p.Gln444SerfsTer?
NM_001199800.2:c.1061_1062insC	NP_001186729.1:p.Gln355SerfsTer?
NM_175924.4:c.1196_1197insC	NP_787120.1:p.Gln400SerfsTer?