Canonical Allele Identifier: CA2069004202

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744065_123744066delinsGT , CM000674.2:g.123744065_123744066delinsGT	GRCh38
NC_000012.11:g.124228612_124228613delinsGT , CM000674.1:g.124228612_124228613delinsGT	GRCh37
NC_000012.10:g.122794565_122794566delinsGT	NCBI36
NG_012743.1:g.36748_36749delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1189+130_1189+131delinsGT MANE Select	ENSP00000332247.2:n.1189+130_1189+131delinsGT
ENST00000540368.6:n.1220+130_1220+131delinsGT
ENST00000674794.1:c.1277+130_1277+131delinsGT
ENST00000675260.1:n.464+130_464+131delinsGT
ENST00000675344.1:c.*210+130_*210+131delinsGT	ENSP00000501953.1:n.*210+130_*210+131delinsGT
ENST00000330342.7:c.1189+130_1189+131delinsGT	ENSP00000332247.2:n.1189+130_1189+131delinsGT
ENST00000504192.2:c.799+130_799+131delinsGT	ENSP00000443441.1:n.799+130_799+131delinsGT
ENST00000536426.1:n.206+130_206+131delinsGT
ENST00000545059.5:n.3825+130_3825+131delinsGT
NM_012463.3:c.1189+130_1189+131delinsGT	NP_036595.2:n.1189+130_1189+131delinsGT
XM_005253563.1:c.1189+130_1189+131delinsGT	XP_005253620.1:n.1189+130_1189+131delinsGT
XM_006719317.2:c.676+130_676+131delinsGT	XP_006719380.1:n.676+130_676+131delinsGT
XM_006719318.2:c.367+130_367+131delinsGT	XP_006719381.1:n.367+130_367+131delinsGT
XR_429088.1:n.1352+130_1352+131delinsGT
XM_024448910.1:c.1189+130_1189+131delinsGT	XP_024304678.1:n.1189+130_1189+131delinsGT
XM_024448911.1:c.676+130_676+131delinsGT	XP_024304679.1:n.676+130_676+131delinsGT
XM_024448912.1:c.367+130_367+131delinsGT	XP_024304680.1:n.367+130_367+131delinsGT
NM_012463.4:c.1189+130_1189+131delinsGT MANE Select	NP_036595.2:n.1189+130_1189+131delinsGT