Canonical Allele Identifier: CA2667222095

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993170-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993176del , CM000665.2:g.121993176del	GRCh38
NC_000003.11:g.121712023del , CM000665.1:g.121712023del	GRCh37
NC_000003.10:g.123194713del	NCBI36
NG_031870.1:g.34110del
NG_031870.2:g.72384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1578del MANE Select	ENSP00000345667.5:p.Ser528ValfsTer?
ENST00000460554.2:n.1528del
ENST00000642615.1:c.*761del	ENSP00000495499.1:n.*761del
ENST00000273691.7:c.1446del	ENSP00000273691.3:p.Ser484ValfsTer?
ENST00000344209.9:c.1578del	ENSP00000345667.5:p.Ser528ValfsTer?
ENST00000393631.5:c.1311del	ENSP00000377251.1:p.Ser439ValfsTer?
ENST00000460554.1:n.1680del
ENST00000462014.1:c.1482del	ENSP00000419414.1:p.Ser496ValfsTer?
NM_001199799.1:c.1578del	NP_001186728.1:p.Ser528ValfsTer?
NM_001199800.1:c.1311del	NP_001186729.1:p.Ser439ValfsTer?
NM_175924.3:c.1446del	NP_787120.1:p.Ser484ValfsTer?
XM_005247389.3:c.1482del	XP_005247446.1:p.Ser496ValfsTer?
XM_011512738.1:c.1558+20del	XP_011511040.1:n.1558+20del
XM_011512739.1:c.1041del	XP_011511041.1:p.Ser349ValfsTer?
XM_005247389.4:c.1482del	XP_005247446.1:p.Ser496ValfsTer?
XM_011512738.2:c.1558+20del	XP_011511040.1:n.1558+20del
XM_011512739.2:c.1041del	XP_011511041.1:p.Ser349ValfsTer?
NM_001199799.2:c.1578del MANE Select	NP_001186728.1:p.Ser528ValfsTer?
NM_001199800.2:c.1311del	NP_001186729.1:p.Ser439ValfsTer?
NM_175924.4:c.1446del	NP_787120.1:p.Ser484ValfsTer?