Canonical Allele Identifier: CA2621700824

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123744274-GTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744277_123744279del , CM000674.2:g.123744277_123744279del	GRCh38
NC_000012.11:g.124228824_124228826del , CM000674.1:g.124228824_124228826del	GRCh37
NC_000012.10:g.122794777_122794779del	NCBI36
NG_012743.1:g.36960_36962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1266_1268del MANE Select	ENSP00000332247.2:p.Phe422del
ENST00000540368.6:n.1297_1299del
ENST00000674794.1:c.1354_1356del
ENST00000675260.1:n.541_543del
ENST00000675344.1:c.*287_*289del	ENSP00000501953.1:n.*287_*289del
ENST00000330342.7:c.1266_1268del	ENSP00000332247.2:p.Phe422del
ENST00000504192.2:c.876_878del	ENSP00000443441.1:p.Phe292del
ENST00000536426.1:n.283_285del
ENST00000545059.5:n.3902_3904del
NM_012463.3:c.1266_1268del	NP_036595.2:p.Phe422del
XM_005253563.1:c.1266_1268del	XP_005253620.1:p.Phe422del
XM_006719317.2:c.753_755del	XP_006719380.1:p.Phe251del
XM_006719318.2:c.444_446del	XP_006719381.1:p.Phe148del
XR_429088.1:n.1429_1431del
XM_024448910.1:c.1266_1268del	XP_024304678.1:p.Phe422del
XM_024448911.1:c.753_755del	XP_024304679.1:p.Phe251del
XM_024448912.1:c.444_446del	XP_024304680.1:p.Phe148del
NM_012463.4:c.1266_1268del MANE Select	NP_036595.2:p.Phe422del