Canonical Allele Identifier: CA7881513

Gene: ZNF500

Linked Data

• dbSNP Id: rs747477130
• ExAC: 16:4812760 GCA / G
• gnomAD v2: 16-4812760-GCA-G
• gnomAD v4: 16-4762759-GCA-G
• MyVariant Identifiers: chr16:g.4812761_4812762del (hg19) ; chr16:g.4762760_4762761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762764_4762765del , CM000678.2:g.4762764_4762765del	GRCh38
NC_000016.9:g.4812765_4812766del , CM000678.1:g.4812765_4812766del	GRCh37
NC_000016.8:g.4752766_4752767del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.415-5_415-4del MANE Select	ENSP00000219478.5:n.415-5_415-4del
ENST00000219478.10:c.415-5_415-4del	ENSP00000219478.5:n.415-5_415-4del
ENST00000545009.1:c.415-5_415-4del	ENSP00000445714.1:n.415-5_415-4del
ENST00000589422.1:c.415-48_415-47del	ENSP00000466375.1:n.415-48_415-47del
NM_001303450.1:c.415-5_415-4del	NP_001290379.1:n.415-5_415-4del
NM_021646.2:c.415-5_415-4del	NP_067678.1:n.415-5_415-4del
XM_005255243.2:c.64-5_64-4del	XP_005255300.1:n.64-5_64-4del
XM_011522453.1:c.415-5_415-4del	XP_011520755.1:n.415-5_415-4del
XM_011522454.1:c.-167-48_-167-47del	XP_011520756.1:n.-167-48_-167-47del
NM_021646.3:c.415-5_415-4del	NP_067678.1:n.415-5_415-4del
XM_005255243.4:c.64-5_64-4del	XP_005255300.1:n.64-5_64-4del
XM_011522453.2:c.415-5_415-4del	XP_011520755.1:n.415-5_415-4del
XM_011522454.3:c.-167-48_-167-47del	XP_011520756.1:n.-167-48_-167-47del
XM_017023121.2:c.-210-5_-210-4del	XP_016878610.1:n.-210-5_-210-4del
NM_001303450.2:c.415-5_415-4del	NP_001290379.1:n.415-5_415-4del
NM_021646.4:c.415-5_415-4del MANE Select	NP_067678.1:n.415-5_415-4del