Canonical Allele Identifier: CA2667222096

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993221-GCGGCTTCTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993225_121993235del , CM000665.2:g.121993225_121993235del	GRCh38
NC_000003.11:g.121712072_121712082del , CM000665.1:g.121712072_121712082del	GRCh37
NC_000003.10:g.123194762_123194772del	NCBI36
NG_031870.1:g.34049_34059del
NG_031870.2:g.72323_72333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1517_1527del MANE Select	ENSP00000345667.5:p.Glu506AlafsTer2
ENST00000460554.2:n.1467_1477del
ENST00000642615.1:c.*700_*710del	ENSP00000495499.1:n.*700_*710del
ENST00000273691.7:c.1385_1395del	ENSP00000273691.3:p.Glu462AlafsTer2
ENST00000344209.9:c.1517_1527del	ENSP00000345667.5:p.Glu506AlafsTer2
ENST00000393631.5:c.1250_1260del	ENSP00000377251.1:p.Glu417AlafsTer2
ENST00000460554.1:n.1619_1629del
ENST00000462014.1:c.1421_1431del	ENSP00000419414.1:p.Glu474AlafsTer2
NM_001199799.1:c.1517_1527del	NP_001186728.1:p.Glu506AlafsTer2
NM_001199800.1:c.1250_1260del	NP_001186729.1:p.Glu417AlafsTer2
NM_175924.3:c.1385_1395del	NP_787120.1:p.Glu462AlafsTer2
XM_005247389.3:c.1421_1431del	XP_005247446.1:p.Glu474AlafsTer2
XM_011512738.1:c.1517_1527del	XP_011511040.1:p.Glu506AlafsTer2
XM_011512739.1:c.980_990del	XP_011511041.1:p.Glu327AlafsTer2
XM_005247389.4:c.1421_1431del	XP_005247446.1:p.Glu474AlafsTer2
XM_011512738.2:c.1517_1527del	XP_011511040.1:p.Glu506AlafsTer2
XM_011512739.2:c.980_990del	XP_011511041.1:p.Glu327AlafsTer2
NM_001199799.2:c.1517_1527del MANE Select	NP_001186728.1:p.Glu506AlafsTer2
NM_001199800.2:c.1250_1260del	NP_001186729.1:p.Glu417AlafsTer2
NM_175924.4:c.1385_1395del	NP_787120.1:p.Glu462AlafsTer2