Canonical Allele Identifier: CA535007526

Gene: IL18RAP

Linked Data

• dbSNP Id: rs1255081418
• gnomAD v2: 2-103068586-A-AAGGAC
• gnomAD v4: 2-102452126-A-AAGGAC
• MyVariant Identifiers: chr2:g.103068586_103068587insAGGAC (hg19) ; chr2:g.102452126_102452127insAGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102452127_102452131dup , CM000664.2:g.102452127_102452131dup	GRCh38
NC_000002.11:g.103068587_103068591dup , CM000664.1:g.103068587_103068591dup	GRCh37
NC_000002.10:g.102435019_102435023dup	NCBI36
NG_011481.1:g.38334_38338dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687160.1:c.1746_1750dup MANE Select	ENSP00000510345.1:p.Leu584GlnfsTer?
ENST00000264260.6:c.1746_1750dup	ENSP00000264260.2:p.Leu584GlnfsTer?
ENST00000409369.1:c.1320_1324dup	ENSP00000387201.1:p.Leu442GlnfsTer?
NM_003853.3:c.1746_1750dup	NP_003844.1:p.Leu584GlnfsTer?
XM_011512087.1:c.1320_1324dup	XP_011510389.1:p.Leu442GlnfsTer?
XM_011512088.1:c.1320_1324dup	XP_011510390.1:p.Leu442GlnfsTer?
XM_011512087.2:c.1320_1324dup	XP_011510389.1:p.Leu442GlnfsTer?
XM_011512088.2:c.1320_1324dup	XP_011510390.1:p.Leu442GlnfsTer?
XM_017005173.1:c.888_892dup	XP_016860662.1:p.Leu298GlnfsTer?
XM_024453197.1:c.1746_1750dup	XP_024308965.1:p.Leu584GlnfsTer?
XM_024453198.1:c.1746_1750dup	XP_024308966.1:p.Leu584GlnfsTer?
XM_024453199.1:c.1746_1750dup	XP_024308967.1:p.Leu584GlnfsTer?
XM_024453200.1:c.1746_1750dup	XP_024308968.1:p.Leu584GlnfsTer?
XM_024453201.1:c.1746_1750dup	XP_024308969.1:p.Leu584GlnfsTer?
NM_001393486.1:c.1746_1750dup	NP_001380415.1:p.Leu584GlnfsTer?
NM_001393487.1:c.1746_1750dup MANE Select	NP_001380416.1:p.Leu584GlnfsTer?
NM_001393488.1:c.1320_1324dup	NP_001380417.1:p.Leu442GlnfsTer?
NM_001393489.1:c.1320_1324dup	NP_001380418.1:p.Leu442GlnfsTer?
NM_003853.4:c.1746_1750dup	NP_003844.1:p.Leu584GlnfsTer?