Canonical Allele Identifier: CA2069003487

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743634_123743636delinsCAA , CM000674.2:g.123743634_123743636delinsCAA	GRCh38
NC_000012.11:g.124228181_124228183delinsCAA , CM000674.1:g.124228181_124228183delinsCAA	GRCh37
NC_000012.10:g.122794134_122794136delinsCAA	NCBI36
NG_012743.1:g.36317_36319delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1039-151_1039-149delinsCAA MANE Select	ENSP00000332247.2:n.1039-151_1039-149delinsCAA
ENST00000540368.6:n.1070-151_1070-149delinsCAA
ENST00000674794.1:c.1127-151_1127-149delinsCAA
ENST00000675260.1:n.163_165delinsCAA
ENST00000675344.1:c.*60-151_*60-149delinsCAA	ENSP00000501953.1:n.*60-151_*60-149delinsCAA
ENST00000330342.7:c.1039-151_1039-149delinsCAA	ENSP00000332247.2:n.1039-151_1039-149delinsCAA
ENST00000504192.2:c.649-151_649-149delinsCAA	ENSP00000443441.1:n.649-151_649-149delinsCAA
ENST00000536426.1:n.56-151_56-149delinsCAA
ENST00000545059.5:n.3675-151_3675-149delinsCAA
NM_012463.3:c.1039-151_1039-149delinsCAA	NP_036595.2:n.1039-151_1039-149delinsCAA
XM_005253563.1:c.1039-151_1039-149delinsCAA	XP_005253620.1:n.1039-151_1039-149delinsCAA
XM_006719317.2:c.526-151_526-149delinsCAA	XP_006719380.1:n.526-151_526-149delinsCAA
XM_006719318.2:c.217-151_217-149delinsCAA	XP_006719381.1:n.217-151_217-149delinsCAA
XR_429088.1:n.1202-151_1202-149delinsCAA
XM_024448910.1:c.1039-151_1039-149delinsCAA	XP_024304678.1:n.1039-151_1039-149delinsCAA
XM_024448911.1:c.526-151_526-149delinsCAA	XP_024304679.1:n.526-151_526-149delinsCAA
XM_024448912.1:c.217-151_217-149delinsCAA	XP_024304680.1:n.217-151_217-149delinsCAA
NM_012463.4:c.1039-151_1039-149delinsCAA MANE Select	NP_036595.2:n.1039-151_1039-149delinsCAA