Canonical Allele Identifier: CA2568618

Gene: ILDR1

Linked Data

• dbSNP Id: rs745654608
• ExAC: 3:121712014 TC / T
• gnomAD v2: 3-121712014-TC-T
• gnomAD v4: 3-121993167-TC-T
• MyVariant Identifiers: chr3:g.121712015del (hg19) ; chr3:g.121993168del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993170del , CM000665.2:g.121993170del	GRCh38
NC_000003.11:g.121712017del , CM000665.1:g.121712017del	GRCh37
NC_000003.10:g.123194707del	NCBI36
NG_031870.1:g.34113del
NG_031870.2:g.72387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1581del MANE Select	ENSP00000345667.5:p.Ser528ValfsTer?
ENST00000460554.2:n.1531del
ENST00000642615.1:c.*764del	ENSP00000495499.1:n.*764del
ENST00000273691.7:c.1449del	ENSP00000273691.3:p.Ser484ValfsTer?
ENST00000344209.9:c.1581del	ENSP00000345667.5:p.Ser528ValfsTer?
ENST00000393631.5:c.1314del	ENSP00000377251.1:p.Ser439ValfsTer?
ENST00000460554.1:n.1683del
ENST00000462014.1:c.1485del	ENSP00000419414.1:p.Ser496ValfsTer?
NM_001199799.1:c.1581del	NP_001186728.1:p.Ser528ValfsTer?
NM_001199800.1:c.1314del	NP_001186729.1:p.Ser439ValfsTer?
NM_175924.3:c.1449del	NP_787120.1:p.Ser484ValfsTer?
XM_005247389.3:c.1485del	XP_005247446.1:p.Ser496ValfsTer?
XM_011512738.1:c.1558+23del	XP_011511040.1:n.1558+23del
XM_011512739.1:c.1044del	XP_011511041.1:p.Ser349ValfsTer?
XM_005247389.4:c.1485del	XP_005247446.1:p.Ser496ValfsTer?
XM_011512738.2:c.1558+23del	XP_011511040.1:n.1558+23del
XM_011512739.2:c.1044del	XP_011511041.1:p.Ser349ValfsTer?
NM_001199799.2:c.1581del MANE Select	NP_001186728.1:p.Ser528ValfsTer?
NM_001199800.2:c.1314del	NP_001186729.1:p.Ser439ValfsTer?
NM_175924.4:c.1449del	NP_787120.1:p.Ser484ValfsTer?