Canonical Allele Identifier: CA16620282
Gene: ZNF469 HGNC NCBI

Linked Data

ClinVar Variation Id: 421353
ClinVar RCV Id: RCV000480677
dbSNP Id: rs1064795080
MyVariant Identifiers: chr16:g.88495551del (hg19) chr16:g.88429143del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88429143del , CM000678.2:g.88429143del GRCh38
NC_000016.9:g.88495551del , CM000678.1:g.88495551del GRCh37
NC_000016.8:g.87023052del NCBI36
NG_012236.2:g.6673del

Transcript Alleles

HGVS Amino-acid change
ENST00000565624.3:c.1673del MANE Select ENSP00000456500.2:p.Ala558ValfsTer26
ENST00000437464.1:c.1673del ENSP00000402343.1:p.Ala558ValfsTer26
ENST00000565624.1:c.1673del ENSP00000456500.1:p.Ala558ValfsTer26
NM_001127464.2:c.1673del NP_001120936.2:p.Ala558ValfsTer26
XM_011523386.1:c.1673del XP_011521688.1:p.Ala558ValfsTer26
XM_011523387.1:c.1673del XP_011521689.1:p.Ala558ValfsTer26
XM_011523388.1:c.1673del XP_011521690.1:p.Ala558ValfsTer26
XM_017023784.1:c.1673del XP_016879273.1:p.Ala558ValfsTer26
XM_017023785.1:c.1673del XP_016879274.1:p.Ala558ValfsTer26
XR_002957934.1:n.250+821del
NM_001367624.1:c.1673del NP_001354553.1:p.Ala558ValfsTer26
NM_001367624.2:c.1673del MANE Select NP_001354553.1:p.Ala558ValfsTer26
Search 100 bp 5'
Search 100 bp 3'