Canonical Allele Identifier: CA2797816149

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744315_123744316insAACA , CM000674.2:g.123744315_123744316insAACA	GRCh38
NC_000012.11:g.124228862_124228863insAACA , CM000674.1:g.124228862_124228863insAACA	GRCh37
NC_000012.10:g.122794815_122794816insAACA	NCBI36
NG_012743.1:g.36998_36999insAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1304_1305insAACA MANE Select	ENSP00000332247.2:p.Arg436ThrfsTer15
ENST00000540368.6:n.1335_1336insAACA
ENST00000674794.1:c.1392_1393insAACA
ENST00000675260.1:n.579_580insAACA
ENST00000675344.1:c.*325_*326insAACA	ENSP00000501953.1:n.*325_*326insAACA
ENST00000330342.7:c.1304_1305insAACA	ENSP00000332247.2:p.Arg436ThrfsTer15
ENST00000504192.2:c.914_915insAACA	ENSP00000443441.1:p.Arg306ThrfsTer15
ENST00000536426.1:n.321_322insAACA
ENST00000545059.5:n.3940_3941insAACA
NM_012463.3:c.1304_1305insAACA	NP_036595.2:p.Arg436ThrfsTer15
XM_005253563.1:c.1304_1305insAACA	XP_005253620.1:p.Arg436ThrfsTer15
XM_006719317.2:c.791_792insAACA	XP_006719380.1:p.Arg265ThrfsTer15
XM_006719318.2:c.482_483insAACA	XP_006719381.1:p.Arg162ThrfsTer15
XR_429088.1:n.1467_1468insAACA
XM_024448910.1:c.1304_1305insAACA	XP_024304678.1:p.Arg436ThrfsTer15
XM_024448911.1:c.791_792insAACA	XP_024304679.1:p.Arg265ThrfsTer15
XM_024448912.1:c.482_483insAACA	XP_024304680.1:p.Arg162ThrfsTer15
NM_012463.4:c.1304_1305insAACA MANE Select	NP_036595.2:p.Arg436ThrfsTer15