Canonical Allele Identifier: CA1397750628

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993068_121993069delinsAG , CM000665.2:g.121993068_121993069delinsAG	GRCh38
NC_000003.11:g.121711915_121711916delinsAG , CM000665.1:g.121711915_121711916delinsAG	GRCh37
NC_000003.10:g.123194605_123194606delinsAG	NCBI36
NG_031870.1:g.34212_34213delinsCT
NG_031870.2:g.72486_72487delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1599+81_1599+82delinsCT MANE Select	ENSP00000345667.5:n.1599+81_1599+82delinsCT
ENST00000460554.2:n.1549+81_1549+82delinsCT
ENST00000642615.1:c.*782+81_*782+82delinsCT	ENSP00000495499.1:n.*782+81_*782+82delinsCT
ENST00000273691.7:c.1467+81_1467+82delinsCT	ENSP00000273691.3:n.1467+81_1467+82delinsCT
ENST00000344209.9:c.1599+81_1599+82delinsCT	ENSP00000345667.5:n.1599+81_1599+82delinsCT
ENST00000393631.5:c.1332+81_1332+82delinsCT	ENSP00000377251.1:n.1332+81_1332+82delinsCT
ENST00000462014.1:c.1503+81_1503+82delinsCT	ENSP00000419414.1:n.1503+81_1503+82delinsCT
NM_001199799.1:c.1599+81_1599+82delinsCT	NP_001186728.1:n.1599+81_1599+82delinsCT
NM_001199800.1:c.1332+81_1332+82delinsCT	NP_001186729.1:n.1332+81_1332+82delinsCT
NM_175924.3:c.1467+81_1467+82delinsCT	NP_787120.1:n.1467+81_1467+82delinsCT
XM_005247389.3:c.1503+81_1503+82delinsCT	XP_005247446.1:n.1503+81_1503+82delinsCT
XM_011512738.1:c.1558+122_1558+123delinsCT	XP_011511040.1:n.1558+122_1558+123delinsCT
XM_011512739.1:c.1062+81_1062+82delinsCT	XP_011511041.1:n.1062+81_1062+82delinsCT
XM_005247389.4:c.1503+81_1503+82delinsCT	XP_005247446.1:n.1503+81_1503+82delinsCT
XM_011512738.2:c.1558+122_1558+123delinsCT	XP_011511040.1:n.1558+122_1558+123delinsCT
XM_011512739.2:c.1062+81_1062+82delinsCT	XP_011511041.1:n.1062+81_1062+82delinsCT
NM_001199799.2:c.1599+81_1599+82delinsCT MANE Select	NP_001186728.1:n.1599+81_1599+82delinsCT
NM_001199800.2:c.1332+81_1332+82delinsCT	NP_001186729.1:n.1332+81_1332+82delinsCT
NM_175924.4:c.1467+81_1467+82delinsCT	NP_787120.1:n.1467+81_1467+82delinsCT