Canonical Allele Identifier: CA245175474

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123712683del , CM000674.2:g.123712683del	GRCh38
NC_000012.11:g.124197230del , CM000674.1:g.124197230del	GRCh37
NC_000012.10:g.122763183del	NCBI36
NG_012743.1:g.5366del

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.117+1del MANE Select	NP_036595.2:n.117+1del
ENST00000330342.8:c.117+1del MANE Select	ENSP00000332247.2:n.117+1del
NM_012463.3:c.117+1del	NP_036595.2:n.117+1del
ENST00000330342.7:c.117+1del	ENSP00000332247.2:n.117+1del
ENST00000540368.5:n.327+1del
ENST00000540368.6:n.148+1del
ENST00000613625.4:c.117+1del	ENSP00000482236.1:n.117+1del
ENST00000613625.5:c.117+1del	ENSP00000482236.1:n.117+1del
ENST00000675344.1:c.117+1del	ENSP00000501953.1:n.117+1del
ENST00000676034.1:n.100+1del
XM_005253563.1:c.117+1del	XP_005253620.1:n.117+1del
XM_024448910.1:c.117+1del	XP_024304678.1:n.117+1del
XR_429088.1:n.280+1del