Canonical Allele Identifier: CA2575342419

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744431_123744441del , CM000674.2:g.123744431_123744441del	GRCh38
NC_000012.11:g.124228978_124228988del , CM000674.1:g.124228978_124228988del	GRCh37
NC_000012.10:g.122794931_122794941del	NCBI36
NG_012743.1:g.37114_37124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1326+94_1326+104del MANE Select	ENSP00000332247.2:n.1326+94_1326+104del
ENST00000540368.6:n.1357+94_1357+104del
ENST00000674794.1:c.1414+94_1414+104del
ENST00000675260.1:n.601+94_601+104del
ENST00000675344.1:c.*347+94_*347+104del	ENSP00000501953.1:n.*347+94_*347+104del
ENST00000330342.7:c.1326+94_1326+104del	ENSP00000332247.2:n.1326+94_1326+104del
ENST00000504192.2:c.936+94_936+104del	ENSP00000443441.1:n.936+94_936+104del
ENST00000536426.1:n.343+94_343+104del
ENST00000545059.5:n.3962+94_3962+104del
NM_012463.3:c.1326+94_1326+104del	NP_036595.2:n.1326+94_1326+104del
XM_005253563.1:c.1326+94_1326+104del	XP_005253620.1:n.1326+94_1326+104del
XM_006719317.2:c.813+94_813+104del	XP_006719380.1:n.813+94_813+104del
XM_006719318.2:c.504+94_504+104del	XP_006719381.1:n.504+94_504+104del
XR_429088.1:n.1489+94_1489+104del
XM_024448910.1:c.1326+94_1326+104del	XP_024304678.1:n.1326+94_1326+104del
XM_024448911.1:c.813+94_813+104del	XP_024304679.1:n.813+94_813+104del
XM_024448912.1:c.504+94_504+104del	XP_024304680.1:n.504+94_504+104del
NM_012463.4:c.1326+94_1326+104del MANE Select	NP_036595.2:n.1326+94_1326+104del