Canonical Allele Identifier: CA2778102335

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706556_138706558del , CM000669.2:g.138706556_138706558del	GRCh38
NC_000007.13:g.138391301_138391303del , CM000669.1:g.138391301_138391303del	GRCh37
NC_000007.12:g.138041841_138041843del	NCBI36
NG_008145.1:g.96640_96642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.*67_*69del MANE Select	ENSP00000308122.2:n.*67_*69del
ENST00000478480.2:c.*155_*157del	ENSP00000495261.1:n.*155_*157del
ENST00000644341.1:c.*67_*69del	ENSP00000495642.1:n.*67_*69del
ENST00000645515.1:c.*67_*69del	ENSP00000496421.1:n.*67_*69del
ENST00000647427.1:c.1365_1367del	ENSP00000496259.1:n.1365_1367del
ENST00000310018.6:c.*67_*69del	ENSP00000308122.2:n.*67_*69del
ENST00000353492.4:c.*67_*69del	ENSP00000253856.6:n.*67_*69del
ENST00000393054.5:c.*67_*69del	ENSP00000376774.1:n.*67_*69del
NM_020632.2:c.*67_*69del	NP_065683.2:n.*67_*69del
NM_130840.2:c.*67_*69del	NP_570855.2:n.*67_*69del
NM_130841.2:c.*67_*69del	NP_570856.2:n.*67_*69del
XM_005250393.1:c.*67_*69del	XP_005250450.1:n.*67_*69del
XM_005250394.2:c.*67_*69del	XP_005250451.1:n.*67_*69del
XM_005250394.3:c.*67_*69del	XP_005250451.1:n.*67_*69del
NM_020632.3:c.*67_*69del MANE Select	NP_065683.2:n.*67_*69del
NM_130840.3:c.*67_*69del	NP_570855.2:n.*67_*69del
NM_130841.3:c.*67_*69del	NP_570856.2:n.*67_*69del