Canonical Allele Identifier: CA82735858

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 523424
• ClinVar RCV Id: RCV000626783 ; RCV001390779 ; RCV002483759
• dbSNP Id: rs571007078
• gnomAD v2: 3-121713061-GA-G
• gnomAD v3: 3-121994214-GA-G
• gnomAD v4: 3-121994214-GA-G
• MyVariant Identifiers: chr3:g.121713062del (hg19) ; chr3:g.121994215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121994217del , CM000665.2:g.121994217del	GRCh38
NC_000003.11:g.121713064del , CM000665.1:g.121713064del	GRCh37
NC_000003.10:g.123195754del	NCBI36
NG_031870.1:g.33066del
NG_031870.2:g.71340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.745del MANE Select	ENSP00000345667.5:p.Ser249HisfsTer24
ENST00000460554.2:n.729-245del
ENST00000642615.1:c.745del	ENSP00000495499.1:p.Ser249HisfsTer?
ENST00000273691.7:c.647-245del	ENSP00000273691.3:n.647-245del
ENST00000344209.9:c.745del	ENSP00000345667.5:p.Ser249HisfsTer24
ENST00000393631.5:c.478del	ENSP00000377251.1:p.Ser160HisfsTer24
ENST00000460554.1:n.866del
ENST00000462014.1:c.683-245del	ENSP00000419414.1:n.683-245del
NM_001199799.1:c.745del	NP_001186728.1:p.Ser249HisfsTer24
NM_001199800.1:c.478del	NP_001186729.1:p.Ser160HisfsTer24
NM_175924.3:c.647-245del	NP_787120.1:n.647-245del
XM_005247389.3:c.683-245del	XP_005247446.1:n.683-245del
XM_011512738.1:c.745del	XP_011511040.1:p.Ser249HisfsTer24
XM_011512739.1:c.242-245del	XP_011511041.1:n.242-245del
XM_005247389.4:c.683-245del	XP_005247446.1:n.683-245del
XM_011512738.2:c.745del	XP_011511040.1:p.Ser249HisfsTer24
XM_011512739.2:c.242-245del	XP_011511041.1:n.242-245del
NM_001199799.2:c.745del MANE Select	NP_001186728.1:p.Ser249HisfsTer24
NM_001199800.2:c.478del	NP_001186729.1:p.Ser160HisfsTer24
NM_175924.4:c.647-245del	NP_787120.1:n.647-245del