Canonical Allele Identifier: CA7881491

Gene: ZNF500

Linked Data

• dbSNP Id: rs775707996
• ExAC: 16:4812701 TAAG / T
• gnomAD v2: 16-4812701-TAAG-T
• gnomAD v4: 16-4762700-TAAG-T
• COSMIC: COSM2832864
• MyVariant Identifiers: chr16:g.4812702_4812704del (hg19) ; chr16:g.4762701_4762703del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762703_4762705del , CM000678.2:g.4762703_4762705del	GRCh38
NC_000016.9:g.4812704_4812706del , CM000678.1:g.4812704_4812706del	GRCh37
NC_000016.8:g.4752705_4752707del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.468_470del MANE Select	ENSP00000219478.5:p.Phe156del
ENST00000219478.10:c.468_470del	ENSP00000219478.5:p.Phe156del
ENST00000545009.1:c.468_470del	ENSP00000445714.1:p.Phe156del
ENST00000589422.1:c.425_427del	ENSP00000466375.1:p.Ser142Ter
NM_001303450.1:c.468_470del	NP_001290379.1:p.Phe156del
NM_021646.2:c.468_470del	NP_067678.1:p.Phe156del
XM_005255243.2:c.117_119del	XP_005255300.1:p.Phe39del
XM_011522453.1:c.468_470del	XP_011520755.1:p.Phe156del
XM_011522454.1:c.-157_-155del	XP_011520756.1:n.-157_-155del
NM_021646.3:c.468_470del	NP_067678.1:p.Phe156del
XM_005255243.4:c.117_119del	XP_005255300.1:p.Phe39del
XM_011522453.2:c.468_470del	XP_011520755.1:p.Phe156del
XM_011522454.3:c.-157_-155del	XP_011520756.1:n.-157_-155del
XM_017023121.2:c.-157_-155del	XP_016878610.1:n.-157_-155del
NM_001303450.2:c.468_470del	NP_001290379.1:p.Phe156del
NM_021646.4:c.468_470del MANE Select	NP_067678.1:p.Phe156del