Canonical Allele Identifier: CA564024609
Gene: IL12B HGNC NCBI

Linked Data

dbSNP Id: rs1292687015
gnomAD v2: 5-158749650-TA-T
gnomAD v3: 5-159322642-TA-T
gnomAD v4: 5-159322642-TA-T
MyVariant Identifiers: chr5:g.158749651del (hg19) chr5:g.159322643del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159322644del , CM000667.2:g.159322644del GRCh38
NC_000005.9:g.158749652del , CM000667.1:g.158749652del GRCh37
NC_000005.8:g.158682230del NCBI36
NG_009618.1:g.12831del , LRG_71:g.12831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2123del ENSP00000512849.1:n.-148-2123del
ENST00000696751.1:c.364+411del ENSP00000512850.1:n.364+411del
ENST00000231228.3:c.365-132del MANE Select ENSP00000231228.2:n.365-132del
ENST00000231228.2:c.365-132del ENSP00000231228.2:n.365-132del
NM_002187.2:c.365-132del , LRG_71t1:c.365-132del NP_002178.2:n.365-132del
XR_001742945.1:n.147+2048del
NM_002187.3:c.365-132del MANE Select NP_002178.2:n.365-132del
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