Canonical Allele Identifier: CA578206725

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1449016704
• gnomAD v2: 7-138391463-CTGTTGT-C
• gnomAD v4: 7-138706718-CTGTTGT-C
• MyVariant Identifiers: chr7:g.138391464_138391469del (hg19) ; chr7:g.138706719_138706724del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706721_138706726del , CM000669.2:g.138706721_138706726del	GRCh38
NC_000007.13:g.138391466_138391471del , CM000669.1:g.138391466_138391471del	GRCh37
NC_000007.12:g.138042006_138042011del	NCBI36
NG_008145.1:g.96473_96478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.2430-7_2430-2del MANE Select	ENSP00000308122.2:n.2430-7_2430-2del
ENST00000478480.2:c.1366-7_1366-2del	ENSP00000495261.1:n.1366-7_1366-2del
ENST00000644341.1:c.1656-7_1656-2del	ENSP00000495642.1:n.1656-7_1656-2del
ENST00000645515.1:c.2430-7_2430-2del	ENSP00000496421.1:n.2430-7_2430-2del
ENST00000647427.1:c.1205-7_1205-2del	ENSP00000496259.1:n.1205-7_1205-2del
ENST00000310018.6:c.2430-7_2430-2del	ENSP00000308122.2:n.2430-7_2430-2del
ENST00000353492.4:c.2430-7_2430-2del	ENSP00000253856.6:n.2430-7_2430-2del
ENST00000393054.5:c.2430-7_2430-2del	ENSP00000376774.1:n.2430-7_2430-2del
NM_020632.2:c.2430-7_2430-2del	NP_065683.2:n.2430-7_2430-2del
NM_130840.2:c.2430-7_2430-2del	NP_570855.2:n.2430-7_2430-2del
NM_130841.2:c.2430-7_2430-2del	NP_570856.2:n.2430-7_2430-2del
XM_005250393.1:c.2430-7_2430-2del	XP_005250450.1:n.2430-7_2430-2del
XM_005250394.2:c.2430-7_2430-2del	XP_005250451.1:n.2430-7_2430-2del
XM_005250394.3:c.2430-7_2430-2del	XP_005250451.1:n.2430-7_2430-2del
NM_020632.3:c.2430-7_2430-2del MANE Select	NP_065683.2:n.2430-7_2430-2del
NM_130840.3:c.2430-7_2430-2del	NP_570855.2:n.2430-7_2430-2del
NM_130841.3:c.2430-7_2430-2del	NP_570856.2:n.2430-7_2430-2del