Canonical Allele Identifier: CA1746794294
Gene: ATP6V0A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138771053_138771054delinsAC , CM000669.2:g.138771053_138771054delinsAC GRCh38
NC_000007.13:g.138455798_138455799delinsAC , CM000669.1:g.138455798_138455799delinsAC GRCh37
NC_000007.12:g.138106338_138106339delinsAC NCBI36
NG_008145.1:g.32143_32144delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.117+77_117+78delinsGT MANE Select ENSP00000308122.2:n.117+77_117+78delinsGT...
ENST00000645515.1:c.117+77_117+78delinsGT ENSP00000496421.1:n.117+77_117+78delinsGT...
ENST00000310018.6:c.117+77_117+78delinsGT ENSP00000308122.2:n.117+77_117+78delinsGT...
ENST00000353492.4:c.117+77_117+78delinsGT ENSP00000253856.6:n.117+77_117+78delinsGT...
ENST00000393054.5:c.117+77_117+78delinsGT ENSP00000376774.1:n.117+77_117+78delinsGT...
ENST00000483139.1:n.366+77_366+78delinsGT
NM_020632.2:c.117+77_117+78delinsGT NP_065683.2:n.117+77_117+78delinsGT
NM_130840.2:c.117+77_117+78delinsGT NP_570855.2:n.117+77_117+78delinsGT
NM_130841.2:c.117+77_117+78delinsGT NP_570856.2:n.117+77_117+78delinsGT
XM_005250393.1:c.117+77_117+78delinsGT XP_005250450.1:n.117+77_117+78delinsGT
XM_005250394.2:c.117+77_117+78delinsGT XP_005250451.1:n.117+77_117+78delinsGT
XM_005250394.3:c.117+77_117+78delinsGT XP_005250451.1:n.117+77_117+78delinsGT
NM_020632.3:c.117+77_117+78delinsGT MANE Select NP_065683.2:n.117+77_117+78delinsGT
NM_130840.3:c.117+77_117+78delinsGT NP_570855.2:n.117+77_117+78delinsGT
NM_130841.3:c.117+77_117+78delinsGT NP_570856.2:n.117+77_117+78delinsGT