Canonical Allele Identifier: CA1052937603

Gene: ILDR1

Linked Data

• gnomAD v3: 3-121993153-G-GATCTA
• gnomAD v4: 3-121993153-G-GATCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993153_121993154insATCTA , CM000665.2:g.121993153_121993154insATCTA	GRCh38
NC_000003.11:g.121712000_121712001insATCTA , CM000665.1:g.121712000_121712001insATCTA	GRCh37
NC_000003.10:g.123194690_123194691insATCTA	NCBI36
NG_031870.1:g.34127_34128insTAGAT
NG_031870.2:g.72401_72402insTAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1595_1596insTAGAT MANE Select	ENSP00000345667.5:p.Ser533ArgfsTer?
ENST00000460554.2:n.1545_1546insTAGAT
ENST00000642615.1:c.*778_*779insTAGAT	ENSP00000495499.1:n.*778_*779insTAGAT
ENST00000273691.7:c.1463_1464insTAGAT	ENSP00000273691.3:p.Ser489ArgfsTer?
ENST00000344209.9:c.1595_1596insTAGAT	ENSP00000345667.5:p.Ser533ArgfsTer?
ENST00000393631.5:c.1328_1329insTAGAT	ENSP00000377251.1:p.Ser444ArgfsTer?
ENST00000460554.1:n.1697_1698insTAGAT
ENST00000462014.1:c.1499_1500insTAGAT	ENSP00000419414.1:p.Ser501ArgfsTer?
NM_001199799.1:c.1595_1596insTAGAT	NP_001186728.1:p.Ser533ArgfsTer?
NM_001199800.1:c.1328_1329insTAGAT	NP_001186729.1:p.Ser444ArgfsTer?
NM_175924.3:c.1463_1464insTAGAT	NP_787120.1:p.Ser489ArgfsTer?
XM_005247389.3:c.1499_1500insTAGAT	XP_005247446.1:p.Ser501ArgfsTer?
XM_011512738.1:c.1558+37_1558+38insTAGAT	XP_011511040.1:n.1558+37_1558+38insTAGAT
XM_011512739.1:c.1058_1059insTAGAT	XP_011511041.1:p.Ser354ArgfsTer?
XM_005247389.4:c.1499_1500insTAGAT	XP_005247446.1:p.Ser501ArgfsTer?
XM_011512738.2:c.1558+37_1558+38insTAGAT	XP_011511040.1:n.1558+37_1558+38insTAGAT
XM_011512739.2:c.1058_1059insTAGAT	XP_011511041.1:p.Ser354ArgfsTer?
NM_001199799.2:c.1595_1596insTAGAT MANE Select	NP_001186728.1:p.Ser533ArgfsTer?
NM_001199800.2:c.1328_1329insTAGAT	NP_001186729.1:p.Ser444ArgfsTer?
NM_175924.4:c.1463_1464insTAGAT	NP_787120.1:p.Ser489ArgfsTer?