Canonical Allele Identifier: CA1810683

Gene: IL18RAP

Linked Data

• dbSNP Id: rs753024824
• ExAC: 2:103068603 GA / G
• gnomAD v2: 2-103068603-GA-G
• gnomAD v3: 2-102452143-GA-G
• gnomAD v4: 2-102452143-GA-G
• MyVariant Identifiers: chr2:g.103068604del (hg19) ; chr2:g.102452145del (hg38) ; chr2:g.102452144del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102452146del , CM000664.2:g.102452146del	GRCh38
NC_000002.11:g.103068606del , CM000664.1:g.103068606del	GRCh37
NC_000002.10:g.102435038del	NCBI36
NG_011481.1:g.38353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687160.1:c.1765del MANE Select	ENSP00000510345.1:p.Thr589ProfsTer?
ENST00000264260.6:c.1765del	ENSP00000264260.2:p.Thr589ProfsTer?
ENST00000409369.1:c.1339del	ENSP00000387201.1:p.Thr447ProfsTer?
NM_003853.3:c.1765del	NP_003844.1:p.Thr589ProfsTer?
XM_011512087.1:c.1339del	XP_011510389.1:p.Thr447ProfsTer?
XM_011512088.1:c.1339del	XP_011510390.1:p.Thr447ProfsTer?
XM_011512087.2:c.1339del	XP_011510389.1:p.Thr447ProfsTer?
XM_011512088.2:c.1339del	XP_011510390.1:p.Thr447ProfsTer?
XM_017005173.1:c.907del	XP_016860662.1:p.Thr303ProfsTer?
XM_024453197.1:c.1765del	XP_024308965.1:p.Thr589ProfsTer?
XM_024453198.1:c.1765del	XP_024308966.1:p.Thr589ProfsTer?
XM_024453199.1:c.1765del	XP_024308967.1:p.Thr589ProfsTer?
XM_024453200.1:c.1765del	XP_024308968.1:p.Thr589ProfsTer?
XM_024453201.1:c.1765del	XP_024308969.1:p.Thr589ProfsTer?
NM_001393486.1:c.1765del	NP_001380415.1:p.Thr589ProfsTer?
NM_001393487.1:c.1765del MANE Select	NP_001380416.1:p.Thr589ProfsTer?
NM_001393488.1:c.1339del	NP_001380417.1:p.Thr447ProfsTer?
NM_001393489.1:c.1339del	NP_001380418.1:p.Thr447ProfsTer?
NM_003853.4:c.1765del	NP_003844.1:p.Thr589ProfsTer?