Canonical Allele Identifier: CA2631540557

Gene: ZNF500

Linked Data

• gnomAD v4: 16-4762722-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762726dup , CM000678.2:g.4762726dup	GRCh38
NC_000016.9:g.4812727dup , CM000678.1:g.4812727dup	GRCh37
NC_000016.8:g.4752728dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.448dup MANE Select	ENSP00000219478.5:p.Leu150ProfsTer?
ENST00000219478.10:c.448dup	ENSP00000219478.5:p.Leu150ProfsTer?
ENST00000545009.1:c.448dup	ENSP00000445714.1:p.Leu150ProfsTer?
ENST00000589422.1:c.415-10dup	ENSP00000466375.1:n.415-10dup
NM_001303450.1:c.448dup	NP_001290379.1:p.Leu150ProfsTer?
NM_021646.2:c.448dup	NP_067678.1:p.Leu150ProfsTer?
XM_005255243.2:c.97dup	XP_005255300.1:p.Leu33ProfsTer?
XM_011522453.1:c.448dup	XP_011520755.1:p.Leu150ProfsTer?
XM_011522454.1:c.-167-10dup	XP_011520756.1:n.-167-10dup
NM_021646.3:c.448dup	NP_067678.1:p.Leu150ProfsTer?
XM_005255243.4:c.97dup	XP_005255300.1:p.Leu33ProfsTer?
XM_011522453.2:c.448dup	XP_011520755.1:p.Leu150ProfsTer?
XM_011522454.3:c.-167-10dup	XP_011520756.1:n.-167-10dup
XM_017023121.2:c.-177dup	XP_016878610.1:n.-177dup
NM_001303450.2:c.448dup	NP_001290379.1:p.Leu150ProfsTer?
NM_021646.4:c.448dup MANE Select	NP_067678.1:p.Leu150ProfsTer?