Canonical Allele Identifier: CA10635129
Gene: ZFYVE26 HGNC NCBI

Linked Data

ClinVar Variation Id: 313879
ClinVar RCV Id: RCV000366633
dbSNP Id: rs886050653

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67761469del , CM000676.2:g.67761469del GRCh38
NC_000014.8:g.68228186del , CM000676.1:g.68228186del GRCh37
NC_000014.7:g.67297939del NCBI36
NG_011836.1:g.60122del

Transcript Alleles

HGVS Amino-acid change
ENST00000347230.9:c.6486del MANE Select ENSP00000251119.5:p.Glu2162AspfsTer20
ENST00000676512.1:c.6504del ENSP00000504552.1:p.Glu2168AspfsTer20
ENST00000676620.1:c.6408del ENSP00000504587.1:p.Glu2136AspfsTer20
ENST00000678386.1:c.6531del ENSP00000503677.1:p.Glu2177AspfsTer20
ENST00000347230.8:c.6486del ENSP00000251119.5:p.Glu2162AspfsTer20
ENST00000394455.6:n.1749del
ENST00000554523.5:n.7241del
ENST00000554557.5:c.*4464del ENSP00000450431.1:n.*4464del
ENST00000555452.1:c.6486del ENSP00000450603.1:p.Glu2162AspfsTer20
ENST00000557306.1:c.24del ENSP00000452142.1:p.Glu8AspfsTer20
NM_015346.3:c.6486del NP_056161.2:p.Glu2162AspfsTer20
XM_006720093.2:c.6486del XP_006720156.1:p.Glu2162AspfsTer20
XM_011536606.1:c.4977del XP_011534908.1:p.Glu1659AspfsTer20
XM_011536607.1:c.4161del XP_011534909.1:p.Glu1387AspfsTer20
XM_011536608.1:c.4068del XP_011534910.1:p.Glu1356AspfsTer20
XM_017021124.1:c.6504del XP_016876613.1:p.Glu2168AspfsTer20
XM_017021125.1:c.6504del XP_016876614.1:p.Glu2168AspfsTer20
XM_017021126.1:c.4995del XP_016876615.1:p.Glu1665AspfsTer20
XM_017021127.2:c.4179del XP_016876616.1:p.Glu1393AspfsTer20
XM_017021128.1:c.4086del XP_016876617.1:p.Glu1362AspfsTer20
NM_015346.4:c.6486del MANE Select NP_056161.2:p.Glu2162AspfsTer20