Canonical Allele Identifier: CA624447567

Gene: ZNF469

Linked Data

• dbSNP Id: rs1350473091
• gnomAD v2: 16-88493908-GC-G
• gnomAD v4: 16-88427500-GC-G
• MyVariant Identifiers: chr16:g.88493909del (hg19) ; chr16:g.88427501del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88427506del , CM000678.2:g.88427506del	GRCh38
NC_000016.9:g.88493914del , CM000678.1:g.88493914del	GRCh37
NC_000016.8:g.87021415del	NCBI36
NG_012236.2:g.5036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.36del MANE Select	ENSP00000456500.2:p.Thr13ProfsTer2
ENST00000437464.1:c.36del	ENSP00000402343.1:p.Thr13ProfsTer2
ENST00000565624.1:c.36del	ENSP00000456500.1:p.Thr13ProfsTer2
NM_001127464.2:c.36del	NP_001120936.2:p.Thr13ProfsTer2
XM_011523386.1:c.36del	XP_011521688.1:p.Thr13ProfsTer2
XM_011523387.1:c.36del	XP_011521689.1:p.Thr13ProfsTer2
XM_011523388.1:c.36del	XP_011521690.1:p.Thr13ProfsTer2
XM_017023784.1:c.36del	XP_016879273.1:p.Thr13ProfsTer2
XM_017023785.1:c.36del	XP_016879274.1:p.Thr13ProfsTer2
XR_002957934.1:n.250+2463del
NM_001367624.1:c.36del	NP_001354553.1:p.Thr13ProfsTer2
NM_001367624.2:c.36del MANE Select	NP_001354553.1:p.Thr13ProfsTer2