Canonical Allele Identifier: CA535596014
Gene: IL1B HGNC NCBI

Linked Data

dbSNP Id: rs1463383969
gnomAD v2: 2-113588142-AT-A
gnomAD v4: 2-112830565-AT-A
MyVariant Identifiers: chr2:g.113588143del (hg19) chr2:g.112830566del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112830566del , CM000664.2:g.112830566del GRCh38
NC_000002.11:g.113588143del , CM000664.1:g.113588143del GRCh37
NC_000002.10:g.113304614del NCBI36
NG_008851.1:g.11214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263341.7:c.605del MANE Select ENSP00000263341.2:p.Asp202ValfsTer19
ENST00000263341.6:c.605del ENSP00000263341.2:p.Asp202ValfsTer19
ENST00000491056.5:n.1412del
NM_000576.2:c.605del NP_000567.1:p.Asp202ValfsTer19
XM_006712496.1:c.371del XP_006712559.1:p.Asp124ValfsTer19
XM_017003988.2:c.512del XP_016859477.1:p.Asp171ValfsTer19
NM_000576.3:c.605del MANE Select NP_000567.1:p.Asp202ValfsTer19
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