Canonical Allele Identifier: CA16618358
Gene: ATP6V0A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 422991
ClinVar RCV Id: RCV000486230
dbSNP Id: rs1064796145
MyVariant Identifiers: chr7:g.138437392_138437393del (hg19) chr7:g.138752647_138752648del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138752647_138752648del , CM000669.2:g.138752647_138752648del GRCh38
NC_000007.13:g.138437392_138437393del , CM000669.1:g.138437392_138437393del GRCh37
NC_000007.12:g.138087932_138087933del NCBI36
NG_008145.1:g.50549_50550del

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.1006_1007del MANE Select ENSP00000308122.2:p.Lys336GlufsTer24
ENST00000478480.2:c.232_233del ENSP00000495261.1:p.Lys78GlufsTer24
ENST00000644341.1:c.232_233del ENSP00000495642.1:p.Lys78GlufsTer24
ENST00000645515.1:c.1006_1007del ENSP00000496421.1:p.Lys336GlufsTer24
ENST00000310018.6:c.1006_1007del ENSP00000308122.2:p.Lys336GlufsTer24
ENST00000353492.4:c.1006_1007del ENSP00000253856.6:p.Lys336GlufsTer24
ENST00000393054.5:c.1006_1007del ENSP00000376774.1:p.Lys336GlufsTer24
ENST00000478480.1:n.493_494del
NM_020632.2:c.1006_1007del NP_065683.2:p.Lys336GlufsTer24
NM_130840.2:c.1006_1007del NP_570855.2:p.Lys336GlufsTer24
NM_130841.2:c.1006_1007del NP_570856.2:p.Lys336GlufsTer24
XM_005250393.1:c.1006_1007del XP_005250450.1:p.Lys336GlufsTer24
XM_005250394.2:c.1006_1007del XP_005250451.1:p.Lys336GlufsTer24
XM_005250394.3:c.1006_1007del XP_005250451.1:p.Lys336GlufsTer24
NM_020632.3:c.1006_1007del MANE Select NP_065683.2:p.Lys336GlufsTer24
NM_130840.3:c.1006_1007del NP_570855.2:p.Lys336GlufsTer24
NM_130841.3:c.1006_1007del NP_570856.2:p.Lys336GlufsTer24
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