Canonical Allele Identifier: CA620507013

Gene: ZNF500

Linked Data

• dbSNP Id: rs1567535204
• gnomAD v2: 16-4812300-G-GCTGACGCCATCTC
• MyVariant Identifiers: chr16:g.4812300_4812301insCTGACGCCATCTC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762304_4762316dup , CM000678.2:g.4762304_4762316dup	GRCh38
NC_000016.9:g.4812305_4812317dup , CM000678.1:g.4812305_4812317dup	GRCh37
NC_000016.8:g.4752306_4752318dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.622_634dup MANE Select	ENSP00000219478.5:p.Ala212GlyfsTer?
ENST00000219478.10:c.622_634dup	ENSP00000219478.5:p.Ala212GlyfsTer?
ENST00000545009.1:c.622_634dup	ENSP00000445714.1:p.Ala212GlyfsTer?
ENST00000589422.1:c.*150_*162dup	ENSP00000466375.1:n.*150_*162dup
NM_001303450.1:c.622_634dup	NP_001290379.1:p.Ala212GlyfsTer?
NM_021646.2:c.622_634dup	NP_067678.1:p.Ala212GlyfsTer?
XM_005255243.2:c.271_283dup	XP_005255300.1:p.Ala95GlyfsTer?
XM_011522453.1:c.622_634dup	XP_011520755.1:p.Ala212GlyfsTer?
XM_011522454.1:c.-3_10dup	XP_011520756.1:p.Ala4GlyfsTer?
NM_021646.3:c.622_634dup	NP_067678.1:p.Ala212GlyfsTer?
XM_005255243.4:c.271_283dup	XP_005255300.1:p.Ala95GlyfsTer?
XM_011522453.2:c.622_634dup	XP_011520755.1:p.Ala212GlyfsTer?
XM_011522454.3:c.-3_10dup	XP_011520756.1:p.Ala4GlyfsTer?
XM_017023121.2:c.-3_10dup	XP_016878610.1:p.Ala4GlyfsTer?
NM_001303450.2:c.622_634dup	NP_001290379.1:p.Ala212GlyfsTer?
NM_021646.4:c.622_634dup MANE Select	NP_067678.1:p.Ala212GlyfsTer?