Canonical Allele Identifier: CA834070554

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1480834573
• gnomAD v4: 7-138762271-G-GTGCA
• MyVariant Identifiers: chr7:g.138447016_138447017insTGCA (hg19) ; chr7:g.138762271_138762272insTGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138762272_138762273insGCAT , CM000669.2:g.138762272_138762273insGCAT	GRCh38
NC_000007.13:g.138447017_138447018insGCAT , CM000669.1:g.138447017_138447018insGCAT	GRCh37
NC_000007.12:g.138097557_138097558insGCAT	NCBI36
NG_008145.1:g.40925_40926insTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.512+68_512+69insTGCA MANE Select	ENSP00000308122.2:n.512+68_512+69insTGCA
ENST00000645515.1:c.512+68_512+69insTGCA	ENSP00000496421.1:n.512+68_512+69insTGCA
ENST00000310018.6:c.512+68_512+69insTGCA	ENSP00000308122.2:n.512+68_512+69insTGCA
ENST00000353492.4:c.512+68_512+69insTGCA	ENSP00000253856.6:n.512+68_512+69insTGCA
ENST00000393054.5:c.512+68_512+69insTGCA	ENSP00000376774.1:n.512+68_512+69insTGCA
ENST00000483139.1:n.761+68_761+69insTGCA
NM_020632.2:c.512+68_512+69insTGCA	NP_065683.2:n.512+68_512+69insTGCA
NM_130840.2:c.512+68_512+69insTGCA	NP_570855.2:n.512+68_512+69insTGCA
NM_130841.2:c.512+68_512+69insTGCA	NP_570856.2:n.512+68_512+69insTGCA
XM_005250393.1:c.512+68_512+69insTGCA	XP_005250450.1:n.512+68_512+69insTGCA
XM_005250394.2:c.512+68_512+69insTGCA	XP_005250451.1:n.512+68_512+69insTGCA
XM_005250394.3:c.512+68_512+69insTGCA	XP_005250451.1:n.512+68_512+69insTGCA
NM_020632.3:c.512+68_512+69insTGCA MANE Select	NP_065683.2:n.512+68_512+69insTGCA
NM_130840.3:c.512+68_512+69insTGCA	NP_570855.2:n.512+68_512+69insTGCA
NM_130841.3:c.512+68_512+69insTGCA	NP_570856.2:n.512+68_512+69insTGCA