Canonical Allele Identifier: CA2568754

Gene: ILDR1

Linked Data

• dbSNP Id: rs760136285
• ExAC: 3:121712443 GC / G
• gnomAD v2: 3-121712443-GC-G
• gnomAD v3: 3-121993596-GC-G
• gnomAD v4: 3-121993596-GC-G
• MyVariant Identifiers: chr3:g.121712444del (hg19) ; chr3:g.121993597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993601del , CM000665.2:g.121993601del	GRCh38
NC_000003.11:g.121712448del , CM000665.1:g.121712448del	GRCh37
NC_000003.10:g.123195138del	NCBI36
NG_031870.1:g.33684del
NG_031870.2:g.71958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1152del MANE Select	ENSP00000345667.5:p.Pro385GlnfsTer24
ENST00000460554.2:n.1102del
ENST00000642615.1:c.*335del	ENSP00000495499.1:n.*335del
ENST00000273691.7:c.1020del	ENSP00000273691.3:p.Pro341GlnfsTer24
ENST00000344209.9:c.1152del	ENSP00000345667.5:p.Pro385GlnfsTer24
ENST00000393631.5:c.885del	ENSP00000377251.1:p.Pro296GlnfsTer24
ENST00000460554.1:n.1254del
ENST00000462014.1:c.1056del	ENSP00000419414.1:p.Pro353GlnfsTer24
NM_001199799.1:c.1152del	NP_001186728.1:p.Pro385GlnfsTer24
NM_001199800.1:c.885del	NP_001186729.1:p.Pro296GlnfsTer24
NM_175924.3:c.1020del	NP_787120.1:p.Pro341GlnfsTer24
XM_005247389.3:c.1056del	XP_005247446.1:p.Pro353GlnfsTer24
XM_011512738.1:c.1152del	XP_011511040.1:p.Pro385GlnfsTer24
XM_011512739.1:c.615del	XP_011511041.1:p.Pro206GlnfsTer24
XM_005247389.4:c.1056del	XP_005247446.1:p.Pro353GlnfsTer24
XM_011512738.2:c.1152del	XP_011511040.1:p.Pro385GlnfsTer24
XM_011512739.2:c.615del	XP_011511041.1:p.Pro206GlnfsTer24
NM_001199799.2:c.1152del MANE Select	NP_001186728.1:p.Pro385GlnfsTer24
NM_001199800.2:c.885del	NP_001186729.1:p.Pro296GlnfsTer24
NM_175924.4:c.1020del	NP_787120.1:p.Pro341GlnfsTer24