Canonical Allele Identifier: CA2507751047

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743840_123743841insGGCG , CM000674.2:g.123743840_123743841insGGCG	GRCh38
NC_000012.11:g.124228387_124228388insGGCG , CM000674.1:g.124228387_124228388insGGCG	GRCh37
NC_000012.10:g.122794340_122794341insGGCG	NCBI36
NG_012743.1:g.36523_36524insGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1094_1095insGGCG MANE Select	ENSP00000332247.2:p.Pro366AlafsTer?
ENST00000540368.6:n.1125_1126insGGCG
ENST00000674794.1:c.1182_1183insGGCG
ENST00000675260.1:n.369_370insGGCG
ENST00000675344.1:c.*115_*116insGGCG	ENSP00000501953.1:n.*115_*116insGGCG
ENST00000330342.7:c.1094_1095insGGCG	ENSP00000332247.2:p.Pro366AlafsTer?
ENST00000504192.2:c.704_705insGGCG	ENSP00000443441.1:p.Pro236AlafsTer?
ENST00000536426.1:n.111_112insGGCG
ENST00000545059.5:n.3730_3731insGGCG
NM_012463.3:c.1094_1095insGGCG	NP_036595.2:p.Pro366AlafsTer?
XM_005253563.1:c.1094_1095insGGCG	XP_005253620.1:p.Pro366AlafsTer?
XM_006719317.2:c.581_582insGGCG	XP_006719380.1:p.Pro195AlafsTer?
XM_006719318.2:c.272_273insGGCG	XP_006719381.1:p.Pro92AlafsTer?
XR_429088.1:n.1257_1258insGGCG
XM_024448910.1:c.1094_1095insGGCG	XP_024304678.1:p.Pro366AlafsTer?
XM_024448911.1:c.581_582insGGCG	XP_024304679.1:p.Pro195AlafsTer?
XM_024448912.1:c.272_273insGGCG	XP_024304680.1:p.Pro92AlafsTer?
NM_012463.4:c.1094_1095insGGCG MANE Select	NP_036595.2:p.Pro366AlafsTer?