Canonical Allele Identifier: CA2579410349

Gene: ZNF462

Linked Data

• ClinVar Variation Id: 2671804
• ClinVar RCV Id: RCV003448886

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.106928092del , CM000671.2:g.106928092del	GRCh38
NC_000009.11:g.109690373del , CM000671.1:g.109690373del	GRCh37
NC_000009.10:g.108730194del	NCBI36
NG_052913.1:g.69996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277225.10:c.4180del MANE Select	ENSP00000277225.5:p.Trp1394GlyfsTer3
ENST00000277225.9:c.4180del	ENSP00000277225.5:p.Trp1394GlyfsTer3
ENST00000374686.6:c.829del	ENSP00000363818.2:p.Trp277GlyfsTer3
ENST00000441147.6:c.715del	ENSP00000397306.2:p.Trp239GlyfsTer3
ENST00000472574.1:c.281-2433del	ENSP00000476222.1:n.281-2433del
ENST00000480607.5:n.240+928del
NM_021224.4:c.4180del	NP_067047.4:p.Trp1394GlyfsTer3
XM_006717209.2:c.4180del	XP_006717272.1:p.Trp1394GlyfsTer3
XM_006717210.2:c.4180del	XP_006717273.1:p.Trp1394GlyfsTer3
XM_006717211.2:c.4180del	XP_006717274.1:p.Trp1394GlyfsTer3
XM_006717212.2:c.4180del	XP_006717275.1:p.Trp1394GlyfsTer3
XM_006717215.2:c.4180del	XP_006717278.1:p.Trp1394GlyfsTer3
XM_006717216.2:c.4180del	XP_006717279.1:p.Trp1394GlyfsTer3
XM_006717218.2:c.3252+928del	XP_006717281.1:n.3252+928del
XM_011518892.1:c.4180del	XP_011517194.1:p.Trp1394GlyfsTer3
NM_001347997.1:c.3252+928del	NP_001334926.1:n.3252+928del
NM_021224.5:c.4180del	NP_067047.4:p.Trp1394GlyfsTer3
XM_006717209.4:c.4180del	XP_006717272.1:p.Trp1394GlyfsTer3
XM_006717211.4:c.4180del	XP_006717274.1:p.Trp1394GlyfsTer3
XM_006717212.4:c.4180del	XP_006717275.1:p.Trp1394GlyfsTer3
XM_006717215.4:c.4180del	XP_006717278.1:p.Trp1394GlyfsTer3
XM_006717216.4:c.4180del	XP_006717279.1:p.Trp1394GlyfsTer3
XM_006717218.4:c.3252+928del	XP_006717281.1:n.3252+928del
XM_017014996.2:c.4180del	XP_016870485.1:p.Trp1394GlyfsTer3
XM_017014997.2:c.4180del	XP_016870486.1:p.Trp1394GlyfsTer3
XM_017014998.2:c.3252+928del	XP_016870487.1:n.3252+928del
XM_024447629.1:c.4180del	XP_024303397.1:p.Trp1394GlyfsTer3
NM_021224.6:c.4180del MANE Select	NP_067047.4:p.Trp1394GlyfsTer3
NM_001347997.2:c.3252+928del	NP_001334926.1:n.3252+928del