Canonical Allele Identifier: CA2621698868

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123735651-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123735654del , CM000674.2:g.123735654del	GRCh38
NC_000012.11:g.124220201del , CM000674.1:g.124220201del	GRCh37
NC_000012.10:g.122786154del	NCBI36
NG_012743.1:g.28337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.825+30del MANE Select	ENSP00000332247.2:n.825+30del
ENST00000540368.6:n.856+30del
ENST00000613625.5:c.825+30del	ENSP00000482236.1:n.825+30del
ENST00000674794.1:c.265+30del
ENST00000675344.1:c.825+30del	ENSP00000501953.1:n.825+30del
ENST00000330342.7:c.825+30del	ENSP00000332247.2:n.825+30del
ENST00000504192.2:c.435+30del	ENSP00000443441.1:n.435+30del
ENST00000540368.5:n.1035+30del
ENST00000545059.5:n.3461+30del
ENST00000613625.4:c.825+30del	ENSP00000482236.1:n.825+30del
NM_012463.3:c.825+30del	NP_036595.2:n.825+30del
XM_005253563.1:c.825+30del	XP_005253620.1:n.825+30del
XM_006719317.2:c.312+30del	XP_006719380.1:n.312+30del
XR_429088.1:n.988+30del
XM_024448910.1:c.825+30del	XP_024304678.1:n.825+30del
XM_024448911.1:c.312+30del	XP_024304679.1:n.312+30del
NM_012463.4:c.825+30del MANE Select	NP_036595.2:n.825+30del