Canonical Allele Identifier: CA2522140565
Gene: ATP6AP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154435258_154435259del , CM000685.2:g.154435258_154435259del GRCh38
NC_000023.10:g.153663604_153663605del , CM000685.1:g.153663604_153663605del GRCh37
NC_000023.9:g.153316798_153316799del NCBI36
NG_008954.1:g.3346_3347del
NG_052807.1:g.11627_11628del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369762.7:c.972-16_972-15del MANE Select ENSP00000358777.2:n.972-16_972-15del
ENST00000439372.6:c.*934-16_*934-15del ENSP00000408317.1:n.*934-16_*934-15del
ENST00000484908.2:n.1498-16_1498-15del
ENST00000619046.5:c.588-16_588-15del ENSP00000482243.2:n.588-16_588-15del
ENST00000677332.1:c.907-16_907-15del ENSP00000502914.1:n.907-16_907-15del
ENST00000677342.1:c.*250-16_*250-15del ENSP00000503173.1:n.*250-16_*250-15del
ENST00000678317.1:n.1504-16_1504-15del
ENST00000679241.1:c.*38-16_*38-15del ENSP00000503588.1:n.*38-16_*38-15del
ENST00000369762.6:c.972-16_972-15del ENSP00000358777.2:n.972-16_972-15del
ENST00000422890.5:c.714-16_714-15del ENSP00000398511.1:n.714-16_714-15del
ENST00000429585.5:c.664-16_664-15del ENSP00000408470.1:n.664-16_664-15del
ENST00000455205.5:c.3450-16_3450-15del
ENST00000491569.5:n.1014-16_1014-15del
ENST00000619046.4:c.405-16_405-15del ENSP00000482243.1:n.405-16_405-15del
NM_001183.5:c.972-16_972-15del NP_001174.2:n.972-16_972-15del
XM_011531179.1:c.405-16_405-15del XP_011529481.1:n.405-16_405-15del
NM_001183.6:c.972-16_972-15del MANE Select NP_001174.2:n.972-16_972-15del