Canonical Allele Identifier: CA2580092239
Community Standard Title: NM_001367624.2(ZNF469):c.5402del (p.Val1801AlafsTer?)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88432872del , CM000678.2:g.88432872del GRCh38
NC_000016.9:g.88499280del , CM000678.1:g.88499280del GRCh37
NC_000016.8:g.87026781del NCBI36
NG_012236.2:g.10402del

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.5402del MANE Select NP_001354553.1:p.Val1801AlafsTer?
ENST00000565624.3:c.5402del MANE Select ENSP00000456500.2:p.Val1801AlafsTer?
NM_001127464.2:c.5318del NP_001120936.2:p.Val1773AlafsTer?
NM_001367624.1:c.5402del NP_001354553.1:p.Val1801AlafsTer?
ENST00000437464.1:c.5318del ENSP00000402343.1:p.Val1773AlafsTer?
ENST00000565624.1:c.5402del ENSP00000456500.1:p.Val1801AlafsTer?
XM_011523386.1:c.5402del XP_011521688.1:p.Val1801AlafsTer?
XM_011523387.1:c.5402del XP_011521689.1:p.Val1801AlafsTer?
XM_011523388.1:c.5402del XP_011521690.1:p.Val1801AlafsTer?
XM_017023784.1:c.5402del XP_016879273.1:p.Val1801AlafsTer?
XM_017023785.1:c.5402del XP_016879274.1:p.Val1801AlafsTer?