Canonical Allele Identifier: CA2068989864

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123735621_123735629delinsCACTGTGAG , CM000674.2:g.123735621_123735629delinsCACTGTGAG	GRCh38
NC_000012.11:g.124220168_124220176delinsCACTGTGAG , CM000674.1:g.124220168_124220176delinsCACTGTGAG	GRCh37
NC_000012.10:g.122786121_122786129delinsCACTGTGAG	NCBI36
NG_012743.1:g.28304_28312delinsCACTGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.822_825+5delinsCACTGTGAG
ENST00000540368.6:n.853_856+5delinsCACTGTGAG
ENST00000613625.5:c.822_825+5delinsCACTGTGAG
ENST00000674794.1:c.262_265+5delinsCACTGTGAG
ENST00000675344.1:c.822_825+5delinsCACTGTGAG
ENST00000330342.7:c.822_825+5delinsCACTGTGAG
ENST00000504192.2:c.432_435+5delinsCACTGTGAG
ENST00000540368.5:n.1032_1035+5delinsCACTGTGAG
ENST00000545059.5:n.3458_3461+5delinsCACTGTGAG
ENST00000613625.4:c.822_825+5delinsCACTGTGAG
NM_012463.3:c.822_825+5delinsCACTGTGAG
XM_005253563.1:c.822_825+5delinsCACTGTGAG
XM_006719317.2:c.309_312+5delinsCACTGTGAG
XR_429088.1:n.985_988+5delinsCACTGTGAG
XM_024448910.1:c.822_825+5delinsCACTGTGAG
XM_024448911.1:c.309_312+5delinsCACTGTGAG
NM_012463.4:c.822_825+5delinsCACTGTGAG