Canonical Allele Identifier: CA2569975600

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743827_123743832del , CM000674.2:g.123743827_123743832del	GRCh38
NC_000012.11:g.124228374_124228379del , CM000674.1:g.124228374_124228379del	GRCh37
NC_000012.10:g.122794327_122794332del	NCBI36
NG_012743.1:g.36510_36515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1081_1086del MANE Select	ENSP00000332247.2:p.Pro361_Thr362del
ENST00000540368.6:n.1112_1117del
ENST00000674794.1:c.1169_1174del
ENST00000675260.1:n.356_361del
ENST00000675344.1:c.*102_*107del	ENSP00000501953.1:n.*102_*107del
ENST00000330342.7:c.1081_1086del	ENSP00000332247.2:p.Pro361_Thr362del
ENST00000504192.2:c.691_696del	ENSP00000443441.1:p.Pro231_Thr232del
ENST00000536426.1:n.98_103del
ENST00000545059.5:n.3717_3722del
NM_012463.3:c.1081_1086del	NP_036595.2:p.Pro361_Thr362del
XM_005253563.1:c.1081_1086del	XP_005253620.1:p.Pro361_Thr362del
XM_006719317.2:c.568_573del	XP_006719380.1:p.Pro190_Thr191del
XM_006719318.2:c.259_264del	XP_006719381.1:p.Pro87_Thr88del
XR_429088.1:n.1244_1249del
XM_024448910.1:c.1081_1086del	XP_024304678.1:p.Pro361_Thr362del
XM_024448911.1:c.568_573del	XP_024304679.1:p.Pro190_Thr191del
XM_024448912.1:c.259_264del	XP_024304680.1:p.Pro87_Thr88del
NM_012463.4:c.1081_1086del MANE Select	NP_036595.2:p.Pro361_Thr362del