Canonical Allele Identifier: CA2621700579

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123743659-AAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743663_123743666del , CM000674.2:g.123743663_123743666del	GRCh38
NC_000012.11:g.124228210_124228213del , CM000674.1:g.124228210_124228213del	GRCh37
NC_000012.10:g.122794163_122794166del	NCBI36
NG_012743.1:g.36346_36349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1039-122_1039-119del MANE Select	ENSP00000332247.2:n.1039-122_1039-119del
ENST00000540368.6:n.1070-122_1070-119del
ENST00000674794.1:c.1127-122_1127-119del
ENST00000675260.1:n.192_195del
ENST00000675344.1:c.*60-122_*60-119del	ENSP00000501953.1:n.*60-122_*60-119del
ENST00000330342.7:c.1039-122_1039-119del	ENSP00000332247.2:n.1039-122_1039-119del
ENST00000504192.2:c.649-122_649-119del	ENSP00000443441.1:n.649-122_649-119del
ENST00000536426.1:n.56-122_56-119del
ENST00000545059.5:n.3675-122_3675-119del
NM_012463.3:c.1039-122_1039-119del	NP_036595.2:n.1039-122_1039-119del
XM_005253563.1:c.1039-122_1039-119del	XP_005253620.1:n.1039-122_1039-119del
XM_006719317.2:c.526-122_526-119del	XP_006719380.1:n.526-122_526-119del
XM_006719318.2:c.217-122_217-119del	XP_006719381.1:n.217-122_217-119del
XR_429088.1:n.1202-122_1202-119del
XM_024448910.1:c.1039-122_1039-119del	XP_024304678.1:n.1039-122_1039-119del
XM_024448911.1:c.526-122_526-119del	XP_024304679.1:n.526-122_526-119del
XM_024448912.1:c.217-122_217-119del	XP_024304680.1:n.217-122_217-119del
NM_012463.4:c.1039-122_1039-119del MANE Select	NP_036595.2:n.1039-122_1039-119del