Canonical Allele Identifier: CA725567551

Gene: ZNF469

Linked Data

• dbSNP Id: rs1393539298
• gnomAD v3: 16-88437297-GCAGCACCCC-G
• gnomAD v4: 16-88437297-GCAGCACCCC-G
• MyVariant Identifiers: chr16:g.88503706_88503714del (hg19) ; chr16:g.88437298_88437306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88437303_88437311del , CM000678.2:g.88437303_88437311del	GRCh38
NC_000016.9:g.88503711_88503719del , CM000678.1:g.88503711_88503719del	GRCh37
NC_000016.8:g.87031212_87031220del	NCBI36
NG_012236.2:g.14833_14841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.9833_9841del MANE Select	ENSP00000456500.2:p.Thr3278_Ser3280del
ENST00000437464.1:c.9749_9757del	ENSP00000402343.1:p.Thr3250_Ser3252del
ENST00000565624.1:c.9833_9841del	ENSP00000456500.1:p.Thr3278_Ser3280del
NM_001127464.2:c.9749_9757del	NP_001120936.2:p.Thr3250_Ser3252del
XM_011523386.1:c.9833_9841del	XP_011521688.1:p.Thr3278_Ser3280del
XM_011523387.1:c.9833_9841del	XP_011521689.1:p.Thr3278_Ser3280del
XM_011523388.1:c.9833_9841del	XP_011521690.1:p.Thr3278_Ser3280del
XM_017023784.1:c.9833_9841del	XP_016879273.1:p.Thr3278_Ser3280del
XM_017023785.1:c.9833_9841del	XP_016879274.1:p.Thr3278_Ser3280del
NM_001367624.1:c.9833_9841del	NP_001354553.1:p.Thr3278_Ser3280del
NM_001367624.2:c.9833_9841del MANE Select	NP_001354553.1:p.Thr3278_Ser3280del