Canonical Allele Identifier: CA4504609

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs57692175
• ExAC: 7:138417596 T / TAA
• gnomAD v2: 7-138417596-T-TAA
• gnomAD v3: 7-138732851-T-TAA
• gnomAD v4: 7-138732851-T-TAA
• MyVariant Identifiers: chr7:g.138417598_138417599insAA (hg19) ; chr7:g.138417596_138417597insAA (hg19) ; chr7:g.138732853_138732854insAA (hg38) ; chr7:g.138732851_138732852insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732863_138732864dup , CM000669.2:g.138732863_138732864dup	GRCh38
NC_000007.13:g.138417608_138417609dup , CM000669.1:g.138417608_138417609dup	GRCh37
NC_000007.12:g.138068148_138068149dup	NCBI36
NG_008145.1:g.70344_70345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1908+24_1908+25dup MANE Select	ENSP00000308122.2:n.1908+24_1908+25dup
ENST00000478480.2:c.1134+24_1134+25dup	ENSP00000495261.1:n.1134+24_1134+25dup
ENST00000644341.1:c.1134+24_1134+25dup	ENSP00000495642.1:n.1134+24_1134+25dup
ENST00000645515.1:c.1908+24_1908+25dup	ENSP00000496421.1:n.1908+24_1908+25dup
ENST00000647427.1:c.801+24_801+25dup	ENSP00000496259.1:n.801+24_801+25dup
ENST00000310018.6:c.1908+24_1908+25dup	ENSP00000308122.2:n.1908+24_1908+25dup
ENST00000353492.4:c.1908+24_1908+25dup	ENSP00000253856.6:n.1908+24_1908+25dup
ENST00000393054.5:c.1908+24_1908+25dup	ENSP00000376774.1:n.1908+24_1908+25dup
NM_020632.2:c.1908+24_1908+25dup	NP_065683.2:n.1908+24_1908+25dup
NM_130840.2:c.1908+24_1908+25dup	NP_570855.2:n.1908+24_1908+25dup
NM_130841.2:c.1908+24_1908+25dup	NP_570856.2:n.1908+24_1908+25dup
XM_005250393.1:c.1908+24_1908+25dup	XP_005250450.1:n.1908+24_1908+25dup
XM_005250394.2:c.1908+24_1908+25dup	XP_005250451.1:n.1908+24_1908+25dup
XM_005250394.3:c.1908+24_1908+25dup	XP_005250451.1:n.1908+24_1908+25dup
NM_020632.3:c.1908+24_1908+25dup MANE Select	NP_065683.2:n.1908+24_1908+25dup
NM_130840.3:c.1908+24_1908+25dup	NP_570855.2:n.1908+24_1908+25dup
NM_130841.3:c.1908+24_1908+25dup	NP_570856.2:n.1908+24_1908+25dup