Canonical Allele Identifier: CA16609492
Gene: ZNF462 HGNC NCBI

Linked Data

ClinVar Variation Id: 402117
ClinVar RCV Id: RCV000450382
dbSNP Id: rs1060499551

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.106928175del , CM000671.2:g.106928175del GRCh38
NC_000009.11:g.109690456del , CM000671.1:g.109690456del GRCh37
NC_000009.10:g.108730277del NCBI36
NG_052913.1:g.70079del

Transcript Alleles

HGVS Amino-acid change
ENST00000277225.10:c.4263del MANE Select ENSP00000277225.5:p.Glu1422SerfsTer6
ENST00000277225.9:c.4263del ENSP00000277225.5:p.Glu1422SerfsTer6
ENST00000374686.6:c.912del ENSP00000363818.2:p.Glu305SerfsTer6
ENST00000441147.6:c.798del ENSP00000397306.2:p.Glu267SerfsTer6
ENST00000472574.1:c.281-2350del ENSP00000476222.1:n.281-2350del
ENST00000480607.5:n.240+1011del
NM_021224.4:c.4263del NP_067047.4:p.Glu1422SerfsTer6
XM_006717209.2:c.4263del XP_006717272.1:p.Glu1422SerfsTer6
XM_006717210.2:c.4263del XP_006717273.1:p.Glu1422SerfsTer6
XM_006717211.2:c.4263del XP_006717274.1:p.Glu1422SerfsTer6
XM_006717212.2:c.4263del XP_006717275.1:p.Glu1422SerfsTer6
XM_006717215.2:c.4263del XP_006717278.1:p.Glu1422SerfsTer6
XM_006717216.2:c.4263del XP_006717279.1:p.Glu1422SerfsTer6
XM_006717218.2:c.3252+1011del XP_006717281.1:n.3252+1011del
XM_011518892.1:c.4263del XP_011517194.1:p.Glu1422SerfsTer6
NM_001347997.1:c.3252+1011del NP_001334926.1:n.3252+1011del
NM_021224.5:c.4263del NP_067047.4:p.Glu1422SerfsTer6
XM_006717209.4:c.4263del XP_006717272.1:p.Glu1422SerfsTer6
XM_006717211.4:c.4263del XP_006717274.1:p.Glu1422SerfsTer6
XM_006717212.4:c.4263del XP_006717275.1:p.Glu1422SerfsTer6
XM_006717215.4:c.4263del XP_006717278.1:p.Glu1422SerfsTer6
XM_006717216.4:c.4263del XP_006717279.1:p.Glu1422SerfsTer6
XM_006717218.4:c.3252+1011del XP_006717281.1:n.3252+1011del
XM_017014996.2:c.4263del XP_016870485.1:p.Glu1422SerfsTer6
XM_017014997.2:c.4263del XP_016870486.1:p.Glu1422SerfsTer6
XM_017014998.2:c.3252+1011del XP_016870487.1:n.3252+1011del
XM_024447629.1:c.4263del XP_024303397.1:p.Glu1422SerfsTer6
NM_021224.6:c.4263del MANE Select NP_067047.4:p.Glu1422SerfsTer6
NM_001347997.2:c.3252+1011del NP_001334926.1:n.3252+1011del