Canonical Allele Identifier: CA2069004947

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744474_123744475delinsAG , CM000674.2:g.123744474_123744475delinsAG	GRCh38
NC_000012.11:g.124229021_124229022delinsAG , CM000674.1:g.124229021_124229022delinsAG	GRCh37
NC_000012.10:g.122794974_122794975delinsAG	NCBI36
NG_012743.1:g.37157_37158delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1327-123_1327-122delinsAG MANE Select	ENSP00000332247.2:n.1327-123_1327-122delinsAG
ENST00000540368.6:n.1358-123_1358-122delinsAG
ENST00000674794.1:c.1415-123_1415-122delinsAG
ENST00000675260.1:n.602-123_602-122delinsAG
ENST00000675344.1:c.*348-123_*348-122delinsAG	ENSP00000501953.1:n.*348-123_*348-122delinsAG
ENST00000330342.7:c.1327-123_1327-122delinsAG	ENSP00000332247.2:n.1327-123_1327-122delinsAG
ENST00000504192.2:c.937-123_937-122delinsAG	ENSP00000443441.1:n.937-123_937-122delinsAG
ENST00000536426.1:n.344-123_344-122delinsAG
ENST00000545059.5:n.3963-123_3963-122delinsAG
NM_012463.3:c.1327-123_1327-122delinsAG	NP_036595.2:n.1327-123_1327-122delinsAG
XM_005253563.1:c.1327-123_1327-122delinsAG	XP_005253620.1:n.1327-123_1327-122delinsAG
XM_006719317.2:c.814-123_814-122delinsAG	XP_006719380.1:n.814-123_814-122delinsAG
XM_006719318.2:c.505-123_505-122delinsAG	XP_006719381.1:n.505-123_505-122delinsAG
XR_429088.1:n.1490-123_1490-122delinsAG
XM_024448910.1:c.1327-123_1327-122delinsAG	XP_024304678.1:n.1327-123_1327-122delinsAG
XM_024448911.1:c.814-123_814-122delinsAG	XP_024304679.1:n.814-123_814-122delinsAG
XM_024448912.1:c.505-123_505-122delinsAG	XP_024304680.1:n.505-123_505-122delinsAG
NM_012463.4:c.1327-123_1327-122delinsAG MANE Select	NP_036595.2:n.1327-123_1327-122delinsAG