Canonical Allele Identifier: CA645293936
Gene: ZBTB18 HGNC NCBI

Linked Data

ClinVar Variation Id: 225922
ClinVar RCV Id: RCV000488886 RCV000509052
dbSNP Id: rs1085307108
MyVariant Identifiers: chr1:g.244218019_244218020del (hg19) chr1:g.244054717_244054718del (hg38)
PubMed: PMID:27598823
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244054717_244054718del , CM000663.2:g.244054717_244054718del GRCh38
NC_000001.10:g.244218019_244218020del , CM000663.1:g.244218019_244218020del GRCh37
NC_000001.9:g.242284642_242284643del NCBI36
NG_033841.1:g.10779_10780del

Transcript Alleles

HGVS Amino-acid change
ENST00000696615.1:c.*120_*121del ENSP00000512755.1:n.*120_*121del
ENST00000696616.1:c.916_917del ENSP00000512756.1:p.Arg306GlyfsTer4
ENST00000696617.1:c.*873_*874del ENSP00000512757.1:n.*873_*874del
ENST00000696618.1:c.916_917del ENSP00000512758.1:p.Arg306GlyfsTer4
ENST00000358704.4:c.943_944del MANE Select ENSP00000351539.4:p.Arg315GlyfsTer4
ENST00000622512.1:c.916_917del ENSP00000481278.1:p.Arg306GlyfsTer4
NM_001278196.1:c.916_917del NP_001265125.1:p.Arg306GlyfsTer4
NM_006352.4:c.916_917del NP_006343.2:p.Arg306GlyfsTer4
NM_205768.2:c.943_944del NP_991331.1:p.Arg315GlyfsTer4
XM_005273006.2:c.916_917del XP_005273063.1:p.Arg306GlyfsTer4
XM_017000060.1:c.916_917del XP_016855549.1:p.Arg306GlyfsTer4
NM_001278196.2:c.916_917del NP_001265125.1:p.Arg306GlyfsTer4
NM_205768.3:c.943_944del MANE Select NP_991331.1:p.Arg315GlyfsTer4
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