Canonical Allele Identifier: CA2568687

Gene: ILDR1

Linked Data

• dbSNP Id: rs769876173
• ExAC: 3:121712208 C / CGTCGT
• gnomAD v2: 3-121712208-C-CGTCGT
• gnomAD v4: 3-121993361-C-CGTCGT
• MyVariant Identifiers: chr3:g.121712208_121712209insGTCGT (hg19) ; chr3:g.121993361_121993362insGTCGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993362_121993366dup , CM000665.2:g.121993362_121993366dup	GRCh38
NC_000003.11:g.121712209_121712213dup , CM000665.1:g.121712209_121712213dup	GRCh37
NC_000003.10:g.123194899_123194903dup	NCBI36
NG_031870.1:g.33915_33919dup
NG_031870.2:g.72189_72193dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.1383_1387dup MANE Select	ENSP00000345667.5:p.Arg463HisfsTer?
ENST00000460554.2:n.1333_1337dup
ENST00000642615.1:c.*566_*570dup	ENSP00000495499.1:n.*566_*570dup
ENST00000273691.7:c.1251_1255dup	ENSP00000273691.3:p.Arg419HisfsTer?
ENST00000344209.9:c.1383_1387dup	ENSP00000345667.5:p.Arg463HisfsTer?
ENST00000393631.5:c.1116_1120dup	ENSP00000377251.1:p.Arg374HisfsTer?
ENST00000460554.1:n.1485_1489dup
ENST00000462014.1:c.1287_1291dup	ENSP00000419414.1:p.Arg431HisfsTer?
NM_001199799.1:c.1383_1387dup	NP_001186728.1:p.Arg463HisfsTer?
NM_001199800.1:c.1116_1120dup	NP_001186729.1:p.Arg374HisfsTer?
NM_175924.3:c.1251_1255dup	NP_787120.1:p.Arg419HisfsTer?
XM_005247389.3:c.1287_1291dup	XP_005247446.1:p.Arg431HisfsTer?
XM_011512738.1:c.1383_1387dup	XP_011511040.1:p.Arg463HisfsTer?
XM_011512739.1:c.846_850dup	XP_011511041.1:p.Arg284HisfsTer?
XM_005247389.4:c.1287_1291dup	XP_005247446.1:p.Arg431HisfsTer?
XM_011512738.2:c.1383_1387dup	XP_011511040.1:p.Arg463HisfsTer?
XM_011512739.2:c.846_850dup	XP_011511041.1:p.Arg284HisfsTer?
NM_001199799.2:c.1383_1387dup MANE Select	NP_001186728.1:p.Arg463HisfsTer?
NM_001199800.2:c.1116_1120dup	NP_001186729.1:p.Arg374HisfsTer?
NM_175924.4:c.1251_1255dup	NP_787120.1:p.Arg419HisfsTer?