Canonical Allele Identifier: CA1397750917

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 996672
• ClinVar RCV Id: RCV001291342
• dbSNP Id: rs2071390190

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993612del , CM000665.2:g.121993612del	GRCh38
NC_000003.11:g.121712459del , CM000665.1:g.121712459del	GRCh37
NC_000003.10:g.123195149del	NCBI36
NG_031870.1:g.33669del
NG_031870.2:g.71943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1137del MANE Select	ENSP00000345667.5:p.Glu379AspfsTer30
ENST00000460554.2:n.1087del
ENST00000642615.1:c.*320del	ENSP00000495499.1:n.*320del
ENST00000273691.7:c.1005del	ENSP00000273691.3:p.Glu335AspfsTer30
ENST00000344209.9:c.1137del	ENSP00000345667.5:p.Glu379AspfsTer30
ENST00000393631.5:c.870del	ENSP00000377251.1:p.Glu290AspfsTer30
ENST00000460554.1:n.1239del
ENST00000462014.1:c.1041del	ENSP00000419414.1:p.Glu347AspfsTer30
NM_001199799.1:c.1137del	NP_001186728.1:p.Glu379AspfsTer30
NM_001199800.1:c.870del	NP_001186729.1:p.Glu290AspfsTer30
NM_175924.3:c.1005del	NP_787120.1:p.Glu335AspfsTer30
XM_005247389.3:c.1041del	XP_005247446.1:p.Glu347AspfsTer30
XM_011512738.1:c.1137del	XP_011511040.1:p.Glu379AspfsTer30
XM_011512739.1:c.600del	XP_011511041.1:p.Glu200AspfsTer30
XM_005247389.4:c.1041del	XP_005247446.1:p.Glu347AspfsTer30
XM_011512738.2:c.1137del	XP_011511040.1:p.Glu379AspfsTer30
XM_011512739.2:c.600del	XP_011511041.1:p.Glu200AspfsTer30
NM_001199799.2:c.1137del MANE Select	NP_001186728.1:p.Glu379AspfsTer30
NM_001199800.2:c.870del	NP_001186729.1:p.Glu290AspfsTer30
NM_175924.4:c.1005del	NP_787120.1:p.Glu335AspfsTer30