Canonical Allele Identifier: CA2838680909
Gene: ATP6V0A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138706715dup , CM000669.2:g.138706715dup GRCh38
NC_000007.13:g.138391460dup , CM000669.1:g.138391460dup GRCh37
NC_000007.12:g.138042000dup NCBI36
NG_008145.1:g.96483dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.2433dup MANE Select ENSP00000308122.2:p.Glu812Ter
ENST00000478480.2:c.1369dup ENSP00000495261.1:p.Ter457LeuextTer?
ENST00000644341.1:c.1659dup ENSP00000495642.1:p.Glu554Ter
ENST00000645515.1:c.2433dup ENSP00000496421.1:p.Glu812Ter
ENST00000647427.1:c.1208dup ENSP00000496259.1:n.1208dup
ENST00000310018.6:c.2433dup ENSP00000308122.2:p.Glu812Ter
ENST00000353492.4:c.2433dup ENSP00000253856.6:p.Glu812Ter
ENST00000393054.5:c.2433dup ENSP00000376774.1:p.Glu812Ter
NM_020632.2:c.2433dup NP_065683.2:p.Glu812Ter
NM_130840.2:c.2433dup NP_570855.2:p.Glu812Ter
NM_130841.2:c.2433dup NP_570856.2:p.Glu812Ter
XM_005250393.1:c.2433dup XP_005250450.1:p.Glu812Ter
XM_005250394.2:c.2433dup XP_005250451.1:p.Glu812Ter
XM_005250394.3:c.2433dup XP_005250451.1:p.Glu812Ter
NM_020632.3:c.2433dup MANE Select NP_065683.2:p.Glu812Ter
NM_130840.3:c.2433dup NP_570855.2:p.Glu812Ter
NM_130841.3:c.2433dup NP_570856.2:p.Glu812Ter