Canonical Allele Identifier: CA1397750676

Gene: ILDR1

Linked Data

• dbSNP Id: rs745654608

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993169_121993170del , CM000665.2:g.121993169_121993170del	GRCh38
NC_000003.11:g.121712016_121712017del , CM000665.1:g.121712016_121712017del	GRCh37
NC_000003.10:g.123194706_123194707del	NCBI36
NG_031870.1:g.34112_34113del
NG_031870.2:g.72386_72387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1580_1581del MANE Select	ENSP00000345667.5:p.Gly527GlufsTer13
ENST00000460554.2:n.1530_1531del
ENST00000642615.1:c.*763_*764del	ENSP00000495499.1:n.*763_*764del
ENST00000273691.7:c.1448_1449del	ENSP00000273691.3:p.Gly483GlufsTer13
ENST00000344209.9:c.1580_1581del	ENSP00000345667.5:p.Gly527GlufsTer13
ENST00000393631.5:c.1313_1314del	ENSP00000377251.1:p.Gly438GlufsTer13
ENST00000460554.1:n.1682_1683del
ENST00000462014.1:c.1484_1485del	ENSP00000419414.1:p.Gly495GlufsTer13
NM_001199799.1:c.1580_1581del	NP_001186728.1:p.Gly527GlufsTer13
NM_001199800.1:c.1313_1314del	NP_001186729.1:p.Gly438GlufsTer13
NM_175924.3:c.1448_1449del	NP_787120.1:p.Gly483GlufsTer13
XM_005247389.3:c.1484_1485del	XP_005247446.1:p.Gly495GlufsTer13
XM_011512738.1:c.1558+22_1558+23del	XP_011511040.1:n.1558+22_1558+23del
XM_011512739.1:c.1043_1044del	XP_011511041.1:p.Gly348GlufsTer13
XM_005247389.4:c.1484_1485del	XP_005247446.1:p.Gly495GlufsTer13
XM_011512738.2:c.1558+22_1558+23del	XP_011511040.1:n.1558+22_1558+23del
XM_011512739.2:c.1043_1044del	XP_011511041.1:p.Gly348GlufsTer13
NM_001199799.2:c.1580_1581del MANE Select	NP_001186728.1:p.Gly527GlufsTer13
NM_001199800.2:c.1313_1314del	NP_001186729.1:p.Gly438GlufsTer13
NM_175924.4:c.1448_1449del	NP_787120.1:p.Gly483GlufsTer13