Canonical Allele Identifier: CA2069004265

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744129_123744132delinsCATT , CM000674.2:g.123744129_123744132delinsCATT	GRCh38
NC_000012.11:g.124228676_124228679delinsCATT , CM000674.1:g.124228676_124228679delinsCATT	GRCh37
NC_000012.10:g.122794629_122794632delinsCATT	NCBI36
NG_012743.1:g.36812_36815delinsCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1190-72_1190-69delinsCATT MANE Select	ENSP00000332247.2:n.1190-72_1190-69delinsCATT
ENST00000540368.6:n.1221-72_1221-69delinsCATT
ENST00000674794.1:c.1278-72_1278-69delinsCATT
ENST00000675260.1:n.465-72_465-69delinsCATT
ENST00000675344.1:c.*211-72_*211-69delinsCATT	ENSP00000501953.1:n.*211-72_*211-69delinsCATT
ENST00000330342.7:c.1190-72_1190-69delinsCATT	ENSP00000332247.2:n.1190-72_1190-69delinsCATT
ENST00000504192.2:c.800-72_800-69delinsCATT	ENSP00000443441.1:n.800-72_800-69delinsCATT
ENST00000536426.1:n.207-72_207-69delinsCATT
ENST00000545059.5:n.3826-72_3826-69delinsCATT
NM_012463.3:c.1190-72_1190-69delinsCATT	NP_036595.2:n.1190-72_1190-69delinsCATT
XM_005253563.1:c.1190-72_1190-69delinsCATT	XP_005253620.1:n.1190-72_1190-69delinsCATT
XM_006719317.2:c.677-72_677-69delinsCATT	XP_006719380.1:n.677-72_677-69delinsCATT
XM_006719318.2:c.368-72_368-69delinsCATT	XP_006719381.1:n.368-72_368-69delinsCATT
XR_429088.1:n.1353-72_1353-69delinsCATT
XM_024448910.1:c.1190-72_1190-69delinsCATT	XP_024304678.1:n.1190-72_1190-69delinsCATT
XM_024448911.1:c.677-72_677-69delinsCATT	XP_024304679.1:n.677-72_677-69delinsCATT
XM_024448912.1:c.368-72_368-69delinsCATT	XP_024304680.1:n.368-72_368-69delinsCATT
NM_012463.4:c.1190-72_1190-69delinsCATT MANE Select	NP_036595.2:n.1190-72_1190-69delinsCATT