Canonical Allele Identifier: CA545962635

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 2689866
• ClinVar RCV Id: RCV003486220
• dbSNP Id: rs1419827895
• gnomAD v2: 3-121712415-TC-T
• gnomAD v4: 3-121993568-TC-T
• MyVariant Identifiers: chr3:g.121712416del (hg19) ; chr3:g.121993569del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993571del , CM000665.2:g.121993571del	GRCh38
NC_000003.11:g.121712418del , CM000665.1:g.121712418del	GRCh37
NC_000003.10:g.123195108del	NCBI36
NG_031870.1:g.33712del
NG_031870.2:g.71986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1180del MANE Select	ENSP00000345667.5:p.Glu394SerfsTer15
ENST00000460554.2:n.1130del
ENST00000642615.1:c.*363del	ENSP00000495499.1:n.*363del
ENST00000273691.7:c.1048del	ENSP00000273691.3:p.Glu350SerfsTer15
ENST00000344209.9:c.1180del	ENSP00000345667.5:p.Glu394SerfsTer15
ENST00000393631.5:c.913del	ENSP00000377251.1:p.Glu305SerfsTer15
ENST00000460554.1:n.1282del
ENST00000462014.1:c.1084del	ENSP00000419414.1:p.Glu362SerfsTer15
NM_001199799.1:c.1180del	NP_001186728.1:p.Glu394SerfsTer15
NM_001199800.1:c.913del	NP_001186729.1:p.Glu305SerfsTer15
NM_175924.3:c.1048del	NP_787120.1:p.Glu350SerfsTer15
XM_005247389.3:c.1084del	XP_005247446.1:p.Glu362SerfsTer15
XM_011512738.1:c.1180del	XP_011511040.1:p.Glu394SerfsTer15
XM_011512739.1:c.643del	XP_011511041.1:p.Glu215SerfsTer15
XM_005247389.4:c.1084del	XP_005247446.1:p.Glu362SerfsTer15
XM_011512738.2:c.1180del	XP_011511040.1:p.Glu394SerfsTer15
XM_011512739.2:c.643del	XP_011511041.1:p.Glu215SerfsTer15
NM_001199799.2:c.1180del MANE Select	NP_001186728.1:p.Glu394SerfsTer15
NM_001199800.2:c.913del	NP_001186729.1:p.Glu305SerfsTer15
NM_175924.4:c.1048del	NP_787120.1:p.Glu350SerfsTer15