Canonical Allele Identifier: CA1746763536

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706308_138706313delinsGTTTAT , CM000669.2:g.138706308_138706313delinsGTTTAT	GRCh38
NC_000007.13:g.138391053_138391058delinsGTTTAT , CM000669.1:g.138391053_138391058delinsGTTTAT	GRCh37
NC_000007.12:g.138041593_138041598delinsGTTTAT	NCBI36
NG_008145.1:g.96884_96889delinsATAAAC
NG_051552.1:g.235_240delinsATAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.*311_*316delinsATAAAC MANE Select	ENSP00000308122.2:n.*311_*316delinsATAAAC
ENST00000645515.1:c.*311_*316delinsATAAAC	ENSP00000496421.1:n.*311_*316delinsATAAAC
ENST00000310018.6:c.*311_*316delinsATAAAC	ENSP00000308122.2:n.*311_*316delinsATAAAC
ENST00000393054.5:c.*311_*316delinsATAAAC	ENSP00000376774.1:n.*311_*316delinsATAAAC
NM_020632.2:c.*311_*316delinsATAAAC	NP_065683.2:n.*311_*316delinsATAAAC
NM_130840.2:c.*311_*316delinsATAAAC	NP_570855.2:n.*311_*316delinsATAAAC
NM_130841.2:c.*311_*316delinsATAAAC	NP_570856.2:n.*311_*316delinsATAAAC
XM_005250393.1:c.*311_*316delinsATAAAC	XP_005250450.1:n.*311_*316delinsATAAAC
XM_005250394.2:c.*311_*316delinsATAAAC	XP_005250451.1:n.*311_*316delinsATAAAC
XM_005250394.3:c.*311_*316delinsATAAAC	XP_005250451.1:n.*311_*316delinsATAAAC
NM_020632.3:c.*311_*316delinsATAAAC MANE Select	NP_065683.2:n.*311_*316delinsATAAAC
NM_130840.3:c.*311_*316delinsATAAAC	NP_570855.2:n.*311_*316delinsATAAAC
NM_130841.3:c.*311_*316delinsATAAAC	NP_570856.2:n.*311_*316delinsATAAAC