Canonical Allele Identifier: CA208147

Gene: ZNF335

Linked Data

• ClinVar Variation Id: 212644
• ClinVar RCV Id: RCV000194161 ; RCV000709923 ; RCV000767204
• dbSNP Id: rs773283542
• ExAC: 20:44587919 GAGA / G
• gnomAD v2: 20-44587919-GAGA-G
• gnomAD v3: 20-45959280-GAGA-G
• gnomAD v4: 20-45959280-GAGA-G
• MyVariant Identifiers: chr20:g.44587920_44587922del (hg19) ; chr20:g.45959281_45959283del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45959286_45959288del , CM000682.2:g.45959286_45959288del	GRCh38
NC_000020.10:g.44587925_44587927del , CM000682.1:g.44587925_44587927del	GRCh37
NC_000020.9:g.44021332_44021334del	NCBI36
NG_029772.1:g.17912_17914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322927.3:c.2171_2173del MANE Select	ENSP00000325326.2:p.Phe724del
ENST00000322927.2:c.2171_2173del	ENSP00000325326.2:p.Phe724del
NM_022095.3:c.2171_2173del	NP_071378.1:p.Phe724del
XM_005260504.3:c.2168_2170del	XP_005260561.1:p.Phe723del
XM_005260506.2:c.1643_1645del	XP_005260563.1:p.Phe548del
XM_011528979.1:c.2171_2173del	XP_011527281.1:p.Phe724del
XR_936602.1:n.2682_2684del
XR_936603.1:n.2683_2685del
XR_936604.1:n.2683_2685del
XM_005260504.4:c.2168_2170del	XP_005260561.1:p.Phe723del
XM_011528979.3:c.2171_2173del	XP_011527281.1:p.Phe724del
XM_017028012.1:c.1643_1645del	XP_016883501.1:p.Phe548del
XR_001754372.2:n.2662_2664del
XR_002958500.1:n.2662_2664del
XR_002958501.1:n.2662_2664del
XR_936602.3:n.2662_2664del
XR_936604.3:n.2662_2664del
NM_022095.4:c.2171_2173del MANE Select	NP_071378.1:p.Phe724del