Canonical Allele Identifier: CA2507751602

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744368_123744369del , CM000674.2:g.123744368_123744369del	GRCh38
NC_000012.11:g.124228915_124228916del , CM000674.1:g.124228915_124228916del	GRCh37
NC_000012.10:g.122794868_122794869del	NCBI36
NG_012743.1:g.37051_37052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1326+31_1326+32del MANE Select	ENSP00000332247.2:n.1326+31_1326+32del
ENST00000540368.6:n.1357+31_1357+32del
ENST00000674794.1:c.1414+31_1414+32del
ENST00000675260.1:n.601+31_601+32del
ENST00000675344.1:c.*347+31_*347+32del	ENSP00000501953.1:n.*347+31_*347+32del
ENST00000330342.7:c.1326+31_1326+32del	ENSP00000332247.2:n.1326+31_1326+32del
ENST00000504192.2:c.936+31_936+32del	ENSP00000443441.1:n.936+31_936+32del
ENST00000536426.1:n.343+31_343+32del
ENST00000545059.5:n.3962+31_3962+32del
NM_012463.3:c.1326+31_1326+32del	NP_036595.2:n.1326+31_1326+32del
XM_005253563.1:c.1326+31_1326+32del	XP_005253620.1:n.1326+31_1326+32del
XM_006719317.2:c.813+31_813+32del	XP_006719380.1:n.813+31_813+32del
XM_006719318.2:c.504+31_504+32del	XP_006719381.1:n.504+31_504+32del
XR_429088.1:n.1489+31_1489+32del
XM_024448910.1:c.1326+31_1326+32del	XP_024304678.1:n.1326+31_1326+32del
XM_024448911.1:c.813+31_813+32del	XP_024304679.1:n.813+31_813+32del
XM_024448912.1:c.504+31_504+32del	XP_024304680.1:n.504+31_504+32del
NM_012463.4:c.1326+31_1326+32del MANE Select	NP_036595.2:n.1326+31_1326+32del