Canonical Allele Identifier: CA1746790689

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1806909914
• gnomAD v4: 7-138763067-TATGACATTCCTGAAATACATTACCCACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138763069_138763096del , CM000669.2:g.138763069_138763096del	GRCh38
NC_000007.13:g.138447814_138447841del , CM000669.1:g.138447814_138447841del	GRCh37
NC_000007.12:g.138098354_138098381del	NCBI36
NG_008145.1:g.40102_40129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.292-70_292-43del MANE Select	ENSP00000308122.2:n.292-70_292-43del
ENST00000645515.1:c.292-70_292-43del	ENSP00000496421.1:n.292-70_292-43del
ENST00000310018.6:c.292-70_292-43del	ENSP00000308122.2:n.292-70_292-43del
ENST00000353492.4:c.292-70_292-43del	ENSP00000253856.6:n.292-70_292-43del
ENST00000393054.5:c.292-70_292-43del	ENSP00000376774.1:n.292-70_292-43del
ENST00000483139.1:n.541-70_541-43del
NM_020632.2:c.292-70_292-43del	NP_065683.2:n.292-70_292-43del
NM_130840.2:c.292-70_292-43del	NP_570855.2:n.292-70_292-43del
NM_130841.2:c.292-70_292-43del	NP_570856.2:n.292-70_292-43del
XM_005250393.1:c.292-70_292-43del	XP_005250450.1:n.292-70_292-43del
XM_005250394.2:c.292-70_292-43del	XP_005250451.1:n.292-70_292-43del
XM_005250394.3:c.292-70_292-43del	XP_005250451.1:n.292-70_292-43del
NM_020632.3:c.292-70_292-43del MANE Select	NP_065683.2:n.292-70_292-43del
NM_130840.3:c.292-70_292-43del	NP_570855.2:n.292-70_292-43del
NM_130841.3:c.292-70_292-43del	NP_570856.2:n.292-70_292-43del