Canonical Allele Identifier: CA4504733

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs757705330
• ExAC: 7:138424295 CCAAA / C
• gnomAD v2: 7-138424295-CCAAA-C
• MyVariant Identifiers: chr7:g.138424296_138424299del (hg19) ; chr7:g.138739551_138739554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138739552_138739555del , CM000669.2:g.138739552_138739555del	GRCh38
NC_000007.13:g.138424297_138424300del , CM000669.1:g.138424297_138424300del	GRCh37
NC_000007.12:g.138074837_138074840del	NCBI36
NG_008145.1:g.63643_63646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.1558_1561del MANE Select	ENSP00000308122.2:p.Phe520GlyfsTer16
ENST00000478480.2:c.784_787del	ENSP00000495261.1:p.Phe262GlyfsTer16
ENST00000644341.1:c.784_787del	ENSP00000495642.1:p.Phe262GlyfsTer16
ENST00000645515.1:c.1558_1561del	ENSP00000496421.1:p.Phe520GlyfsTer16
ENST00000647427.1:c.451_454del	ENSP00000496259.1:p.Phe151GlyfsTer16
ENST00000310018.6:c.1558_1561del	ENSP00000308122.2:p.Phe520GlyfsTer16
ENST00000353492.4:c.1558_1561del	ENSP00000253856.6:p.Phe520GlyfsTer16
ENST00000393054.5:c.1558_1561del	ENSP00000376774.1:p.Phe520GlyfsTer16
ENST00000471085.1:n.252-5300_252-5297del
NM_020632.2:c.1558_1561del	NP_065683.2:p.Phe520GlyfsTer16
NM_130840.2:c.1558_1561del	NP_570855.2:p.Phe520GlyfsTer16
NM_130841.2:c.1558_1561del	NP_570856.2:p.Phe520GlyfsTer16
XM_005250393.1:c.1558_1561del	XP_005250450.1:p.Phe520GlyfsTer16
XM_005250394.2:c.1558_1561del	XP_005250451.1:p.Phe520GlyfsTer16
XM_005250394.3:c.1558_1561del	XP_005250451.1:p.Phe520GlyfsTer16
NM_020632.3:c.1558_1561del MANE Select	NP_065683.2:p.Phe520GlyfsTer16
NM_130840.3:c.1558_1561del	NP_570855.2:p.Phe520GlyfsTer16
NM_130841.3:c.1558_1561del	NP_570856.2:p.Phe520GlyfsTer16