Canonical Allele Identifier: CA2568728

Gene: ILDR1

Linked Data

• dbSNP Id: rs775181177
• ExAC: 3:121712347 CTGACCAGTG / C
• gnomAD v2: 3-121712347-CTGACCAGTG-C
• gnomAD v4: 3-121993500-CTGACCAGTG-C
• MyVariant Identifiers: chr3:g.121712348_121712356del (hg19) ; chr3:g.121993501_121993509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993502_121993510del , CM000665.2:g.121993502_121993510del	GRCh38
NC_000003.11:g.121712349_121712357del , CM000665.1:g.121712349_121712357del	GRCh37
NC_000003.10:g.123195039_123195047del	NCBI36
NG_031870.1:g.33772_33780del
NG_031870.2:g.72046_72054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1240_1248del MANE Select	ENSP00000345667.5:p.His414_Ser416del
ENST00000460554.2:n.1190_1198del
ENST00000642615.1:c.*423_*431del	ENSP00000495499.1:n.*423_*431del
ENST00000273691.7:c.1108_1116del	ENSP00000273691.3:p.His370_Ser372del
ENST00000344209.9:c.1240_1248del	ENSP00000345667.5:p.His414_Ser416del
ENST00000393631.5:c.973_981del	ENSP00000377251.1:p.His325_Ser327del
ENST00000460554.1:n.1342_1350del
ENST00000462014.1:c.1144_1152del	ENSP00000419414.1:p.His382_Ser384del
NM_001199799.1:c.1240_1248del	NP_001186728.1:p.His414_Ser416del
NM_001199800.1:c.973_981del	NP_001186729.1:p.His325_Ser327del
NM_175924.3:c.1108_1116del	NP_787120.1:p.His370_Ser372del
XM_005247389.3:c.1144_1152del	XP_005247446.1:p.His382_Ser384del
XM_011512738.1:c.1240_1248del	XP_011511040.1:p.His414_Ser416del
XM_011512739.1:c.703_711del	XP_011511041.1:p.His235_Ser237del
XM_005247389.4:c.1144_1152del	XP_005247446.1:p.His382_Ser384del
XM_011512738.2:c.1240_1248del	XP_011511040.1:p.His414_Ser416del
XM_011512739.2:c.703_711del	XP_011511041.1:p.His235_Ser237del
NM_001199799.2:c.1240_1248del MANE Select	NP_001186728.1:p.His414_Ser416del
NM_001199800.2:c.973_981del	NP_001186729.1:p.His325_Ser327del
NM_175924.4:c.1108_1116del	NP_787120.1:p.His370_Ser372del