Canonical Allele Identifier: CA578622004

Gene: ATP6V0A4

Linked Data

• ClinVar Variation Id: 1193558
• ClinVar RCV Id: RCV001555997
• dbSNP Id: rs1222586282
• gnomAD v2: 7-138417538-CAA-C
• gnomAD v3: 7-138732793-CAA-C
• gnomAD v4: 7-138732793-CAA-C
• MyVariant Identifiers: chr7:g.138417539_138417540del (hg19) ; chr7:g.138732794_138732795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732805_138732806del , CM000669.2:g.138732805_138732806del	GRCh38
NC_000007.13:g.138417550_138417551del , CM000669.1:g.138417550_138417551del	GRCh37
NC_000007.12:g.138068090_138068091del	NCBI36
NG_008145.1:g.70402_70403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1908+82_1908+83del MANE Select	ENSP00000308122.2:n.1908+82_1908+83del
ENST00000478480.2:c.1134+82_1134+83del	ENSP00000495261.1:n.1134+82_1134+83del
ENST00000644341.1:c.1134+82_1134+83del	ENSP00000495642.1:n.1134+82_1134+83del
ENST00000645515.1:c.1908+82_1908+83del	ENSP00000496421.1:n.1908+82_1908+83del
ENST00000647427.1:c.801+82_801+83del	ENSP00000496259.1:n.801+82_801+83del
ENST00000310018.6:c.1908+82_1908+83del	ENSP00000308122.2:n.1908+82_1908+83del
ENST00000353492.4:c.1908+82_1908+83del	ENSP00000253856.6:n.1908+82_1908+83del
ENST00000393054.5:c.1908+82_1908+83del	ENSP00000376774.1:n.1908+82_1908+83del
NM_020632.2:c.1908+82_1908+83del	NP_065683.2:n.1908+82_1908+83del
NM_130840.2:c.1908+82_1908+83del	NP_570855.2:n.1908+82_1908+83del
NM_130841.2:c.1908+82_1908+83del	NP_570856.2:n.1908+82_1908+83del
XM_005250393.1:c.1908+82_1908+83del	XP_005250450.1:n.1908+82_1908+83del
XM_005250394.2:c.1908+82_1908+83del	XP_005250451.1:n.1908+82_1908+83del
XM_005250394.3:c.1908+82_1908+83del	XP_005250451.1:n.1908+82_1908+83del
NM_020632.3:c.1908+82_1908+83del MANE Select	NP_065683.2:n.1908+82_1908+83del
NM_130840.3:c.1908+82_1908+83del	NP_570855.2:n.1908+82_1908+83del
NM_130841.3:c.1908+82_1908+83del	NP_570856.2:n.1908+82_1908+83del