Canonical Allele Identifier: CA2069005177

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744565_123744566delinsAC , CM000674.2:g.123744565_123744566delinsAC	GRCh38
NC_000012.11:g.124229112_124229113delinsAC , CM000674.1:g.124229112_124229113delinsAC	GRCh37
NC_000012.10:g.122795065_122795066delinsAC	NCBI36
NG_012743.1:g.37248_37249delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1327-32_1327-31delinsAC MANE Select	ENSP00000332247.2:n.1327-32_1327-31delinsAC
ENST00000540368.6:n.1358-32_1358-31delinsAC
ENST00000674794.1:c.1415-32_1415-31delinsAC
ENST00000675260.1:n.602-32_602-31delinsAC
ENST00000675344.1:c.*348-32_*348-31delinsAC	ENSP00000501953.1:n.*348-32_*348-31delinsAC
ENST00000330342.7:c.1327-32_1327-31delinsAC	ENSP00000332247.2:n.1327-32_1327-31delinsAC
ENST00000504192.2:c.937-32_937-31delinsAC	ENSP00000443441.1:n.937-32_937-31delinsAC
ENST00000536426.1:n.344-32_344-31delinsAC
ENST00000545059.5:n.3963-32_3963-31delinsAC
NM_012463.3:c.1327-32_1327-31delinsAC	NP_036595.2:n.1327-32_1327-31delinsAC
XM_005253563.1:c.1327-32_1327-31delinsAC	XP_005253620.1:n.1327-32_1327-31delinsAC
XM_006719317.2:c.814-32_814-31delinsAC	XP_006719380.1:n.814-32_814-31delinsAC
XM_006719318.2:c.505-32_505-31delinsAC	XP_006719381.1:n.505-32_505-31delinsAC
XR_429088.1:n.1490-32_1490-31delinsAC
XM_024448910.1:c.1327-32_1327-31delinsAC	XP_024304678.1:n.1327-32_1327-31delinsAC
XM_024448911.1:c.814-32_814-31delinsAC	XP_024304679.1:n.814-32_814-31delinsAC
XM_024448912.1:c.505-32_505-31delinsAC	XP_024304680.1:n.505-32_505-31delinsAC
NM_012463.4:c.1327-32_1327-31delinsAC MANE Select	NP_036595.2:n.1327-32_1327-31delinsAC