Canonical Allele Identifier: CA919645171

Gene: ZNF500

Linked Data

• dbSNP Id: rs1596504645

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762290_4762293del , CM000678.2:g.4762290_4762293del	GRCh38
NC_000016.9:g.4812291_4812294del , CM000678.1:g.4812291_4812294del	GRCh37
NC_000016.8:g.4752292_4752295del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.645_648del MANE Select	ENSP00000219478.5:p.Leu216ArgfsTer8
ENST00000219478.10:c.645_648del	ENSP00000219478.5:p.Leu216ArgfsTer8
ENST00000545009.1:c.645_648del	ENSP00000445714.1:p.Leu216ArgfsTer8
ENST00000589422.1:c.*173_*176del	ENSP00000466375.1:n.*173_*176del
NM_001303450.1:c.645_648del	NP_001290379.1:p.Leu216ArgfsTer8
NM_021646.2:c.645_648del	NP_067678.1:p.Leu216ArgfsTer8
XM_005255243.2:c.294_297del	XP_005255300.1:p.Leu99ArgfsTer8
XM_011522453.1:c.645_648del	XP_011520755.1:p.Leu216ArgfsTer8
XM_011522454.1:c.21_24del	XP_011520756.1:p.Leu8ArgfsTer8
NM_021646.3:c.645_648del	NP_067678.1:p.Leu216ArgfsTer8
XM_005255243.4:c.294_297del	XP_005255300.1:p.Leu99ArgfsTer8
XM_011522453.2:c.645_648del	XP_011520755.1:p.Leu216ArgfsTer8
XM_011522454.3:c.21_24del	XP_011520756.1:p.Leu8ArgfsTer8
XM_017023121.2:c.21_24del	XP_016878610.1:p.Leu8ArgfsTer8
NM_001303450.2:c.645_648del	NP_001290379.1:p.Leu216ArgfsTer8
NM_021646.4:c.645_648del MANE Select	NP_067678.1:p.Leu216ArgfsTer8