Canonical Allele Identifier: CA2568657

Gene: ILDR1

Linked Data

• dbSNP Id: rs748215825
• ExAC: 3:121712106 CG / C
• gnomAD v2: 3-121712106-CG-C
• gnomAD v4: 3-121993259-CG-C
• MyVariant Identifiers: chr3:g.121712107del (hg19) ; chr3:g.121993260del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993261del , CM000665.2:g.121993261del	GRCh38
NC_000003.11:g.121712108del , CM000665.1:g.121712108del	GRCh37
NC_000003.10:g.123194798del	NCBI36
NG_031870.1:g.34021del
NG_031870.2:g.72295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1489del MANE Select	ENSP00000345667.5:p.Arg497AlafsTer?
ENST00000460554.2:n.1439del
ENST00000642615.1:c.*672del	ENSP00000495499.1:n.*672del
ENST00000273691.7:c.1357del	ENSP00000273691.3:p.Arg453AlafsTer?
ENST00000344209.9:c.1489del	ENSP00000345667.5:p.Arg497AlafsTer?
ENST00000393631.5:c.1222del	ENSP00000377251.1:p.Arg408AlafsTer?
ENST00000460554.1:n.1591del
ENST00000462014.1:c.1393del	ENSP00000419414.1:p.Arg465AlafsTer?
NM_001199799.1:c.1489del	NP_001186728.1:p.Arg497AlafsTer?
NM_001199800.1:c.1222del	NP_001186729.1:p.Arg408AlafsTer?
NM_175924.3:c.1357del	NP_787120.1:p.Arg453AlafsTer?
XM_005247389.3:c.1393del	XP_005247446.1:p.Arg465AlafsTer?
XM_011512738.1:c.1489del	XP_011511040.1:p.Arg497AlafsTer?
XM_011512739.1:c.952del	XP_011511041.1:p.Arg318AlafsTer?
XM_005247389.4:c.1393del	XP_005247446.1:p.Arg465AlafsTer?
XM_011512738.2:c.1489del	XP_011511040.1:p.Arg497AlafsTer?
XM_011512739.2:c.952del	XP_011511041.1:p.Arg318AlafsTer?
NM_001199799.2:c.1489del MANE Select	NP_001186728.1:p.Arg497AlafsTer?
NM_001199800.2:c.1222del	NP_001186729.1:p.Arg408AlafsTer?
NM_175924.4:c.1357del	NP_787120.1:p.Arg453AlafsTer?