Canonical Allele Identifier: CA2685127676
Gene: ATP6V0A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138732861_138732864del , CM000669.2:g.138732861_138732864del GRCh38
NC_000007.13:g.138417606_138417609del , CM000669.1:g.138417606_138417609del GRCh37
NC_000007.12:g.138068146_138068149del NCBI36
NG_008145.1:g.70342_70345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.1908+22_1908+25del MANE Select ENSP00000308122.2:n.1908+22_1908+25del
ENST00000478480.2:c.1134+22_1134+25del ENSP00000495261.1:n.1134+22_1134+25del
ENST00000644341.1:c.1134+22_1134+25del ENSP00000495642.1:n.1134+22_1134+25del
ENST00000645515.1:c.1908+22_1908+25del ENSP00000496421.1:n.1908+22_1908+25del
ENST00000647427.1:c.801+22_801+25del ENSP00000496259.1:n.801+22_801+25del
ENST00000310018.6:c.1908+22_1908+25del ENSP00000308122.2:n.1908+22_1908+25del
ENST00000353492.4:c.1908+22_1908+25del ENSP00000253856.6:n.1908+22_1908+25del
ENST00000393054.5:c.1908+22_1908+25del ENSP00000376774.1:n.1908+22_1908+25del
NM_020632.2:c.1908+22_1908+25del NP_065683.2:n.1908+22_1908+25del
NM_130840.2:c.1908+22_1908+25del NP_570855.2:n.1908+22_1908+25del
NM_130841.2:c.1908+22_1908+25del NP_570856.2:n.1908+22_1908+25del
XM_005250393.1:c.1908+22_1908+25del XP_005250450.1:n.1908+22_1908+25del
XM_005250394.2:c.1908+22_1908+25del XP_005250451.1:n.1908+22_1908+25del
XM_005250394.3:c.1908+22_1908+25del XP_005250451.1:n.1908+22_1908+25del
NM_020632.3:c.1908+22_1908+25del MANE Select NP_065683.2:n.1908+22_1908+25del
NM_130840.3:c.1908+22_1908+25del NP_570855.2:n.1908+22_1908+25del
NM_130841.3:c.1908+22_1908+25del NP_570856.2:n.1908+22_1908+25del