Canonical Allele Identifier: CA2575342368

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743813_123743816del , CM000674.2:g.123743813_123743816del	GRCh38
NC_000012.11:g.124228360_124228363del , CM000674.1:g.124228360_124228363del	GRCh37
NC_000012.10:g.122794313_122794316del	NCBI36
NG_012743.1:g.36496_36499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1067_1070del MANE Select	ENSP00000332247.2:p.Phe356Ter
ENST00000540368.6:n.1098_1101del
ENST00000674794.1:c.1155_1158del
ENST00000675260.1:n.342_345del
ENST00000675344.1:c.*88_*91del	ENSP00000501953.1:n.*88_*91del
ENST00000330342.7:c.1067_1070del	ENSP00000332247.2:p.Phe356Ter
ENST00000504192.2:c.677_680del	ENSP00000443441.1:p.Phe226Ter
ENST00000536426.1:n.84_87del
ENST00000545059.5:n.3703_3706del
NM_012463.3:c.1067_1070del	NP_036595.2:p.Phe356Ter
XM_005253563.1:c.1067_1070del	XP_005253620.1:p.Phe356Ter
XM_006719317.2:c.554_557del	XP_006719380.1:p.Phe185Ter
XM_006719318.2:c.245_248del	XP_006719381.1:p.Phe82Ter
XR_429088.1:n.1230_1233del
XM_024448910.1:c.1067_1070del	XP_024304678.1:p.Phe356Ter
XM_024448911.1:c.554_557del	XP_024304679.1:p.Phe185Ter
XM_024448912.1:c.245_248del	XP_024304680.1:p.Phe82Ter
NM_012463.4:c.1067_1070del MANE Select	NP_036595.2:p.Phe356Ter