Canonical Allele Identifier: CA7240272
Gene: ZFYVE26 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67793712del , CM000676.2:g.67793712del GRCh38
NC_000014.8:g.68260429del , CM000676.1:g.68260429del GRCh37
NC_000014.7:g.67330182del NCBI36
NG_011836.1:g.27879del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347230.9:c.2450del MANE Select ENSP00000251119.5:p.Leu817CysfsTer12
ENST00000676512.1:c.2450del ENSP00000504552.1:p.Leu817CysfsTer12
ENST00000676620.1:c.2450del ENSP00000504587.1:p.Leu817CysfsTer12
ENST00000677026.1:c.2246del ENSP00000503710.1:p.Leu749CysfsTer12
ENST00000678382.1:c.*1445del ENSP00000504130.1:n.*1445del
ENST00000678386.1:c.2450del ENSP00000503677.1:p.Leu817CysfsTer12
ENST00000347230.8:c.2450del ENSP00000251119.5:p.Leu817CysfsTer12
ENST00000554523.5:n.2587del
ENST00000554557.5:c.*747del ENSP00000450431.1:n.*747del
ENST00000555452.1:c.2450del ENSP00000450603.1:p.Leu817CysfsTer12
NM_015346.3:c.2450del NP_056161.2:p.Leu817CysfsTer12
XM_006720093.2:c.2450del XP_006720156.1:p.Leu817CysfsTer12
XM_011536606.1:c.941del XP_011534908.1:p.Leu314CysfsTer12
XM_011536607.1:c.125del XP_011534909.1:p.Leu42CysfsTer12
XM_011536608.1:c.32del XP_011534910.1:p.Leu11CysfsTer12
XM_011536609.1:c.2450del XP_011534911.1:p.Leu817CysfsTer12
XM_011536609.2:c.2450del XP_011534911.1:p.Leu817CysfsTer12
XM_017021124.1:c.2450del XP_016876613.1:p.Leu817CysfsTer12
XM_017021125.1:c.2450del XP_016876614.1:p.Leu817CysfsTer12
XM_017021126.1:c.941del XP_016876615.1:p.Leu314CysfsTer12
XM_017021127.2:c.125del XP_016876616.1:p.Leu42CysfsTer12
XM_017021128.1:c.32del XP_016876617.1:p.Leu11CysfsTer12
NM_015346.4:c.2450del MANE Select NP_056161.2:p.Leu817CysfsTer12