Canonical Allele Identifier: CA2631540399

Gene: ZNF500

Linked Data

• gnomAD v4: 16-4762572-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762577_4762580del , CM000678.2:g.4762577_4762580del	GRCh38
NC_000016.9:g.4812578_4812581del , CM000678.1:g.4812578_4812581del	GRCh37
NC_000016.8:g.4752579_4752582del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.595_598del MANE Select	ENSP00000219478.5:p.Arg199AlafsTer25
ENST00000219478.10:c.595_598del	ENSP00000219478.5:p.Arg199AlafsTer25
ENST00000545009.1:c.595_598del	ENSP00000445714.1:p.Arg199AlafsTer25
ENST00000589422.1:c.*123_*126del	ENSP00000466375.1:n.*123_*126del
NM_001303450.1:c.595_598del	NP_001290379.1:p.Arg199AlafsTer25
NM_021646.2:c.595_598del	NP_067678.1:p.Arg199AlafsTer25
XM_005255243.2:c.244_247del	XP_005255300.1:p.Arg82AlafsTer25
XM_011522453.1:c.595_598del	XP_011520755.1:p.Arg199AlafsTer25
XM_011522454.1:c.-30_-27del	XP_011520756.1:n.-30_-27del
NM_021646.3:c.595_598del	NP_067678.1:p.Arg199AlafsTer25
XM_005255243.4:c.244_247del	XP_005255300.1:p.Arg82AlafsTer25
XM_011522453.2:c.595_598del	XP_011520755.1:p.Arg199AlafsTer25
XM_011522454.3:c.-30_-27del	XP_011520756.1:n.-30_-27del
XM_017023121.2:c.-30_-27del	XP_016878610.1:n.-30_-27del
NM_001303450.2:c.595_598del	NP_001290379.1:p.Arg199AlafsTer25
NM_021646.4:c.595_598del MANE Select	NP_067678.1:p.Arg199AlafsTer25