Canonical Allele Identifier: CA2685130971

Gene: ATP6V0A4

Linked Data

• gnomAD v4: 7-138771069-GTGCAAGAGTTATCTACTCCCACCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138771073_138771097del , CM000669.2:g.138771073_138771097del	GRCh38
NC_000007.13:g.138455818_138455842del , CM000669.1:g.138455818_138455842del	GRCh37
NC_000007.12:g.138106358_138106382del	NCBI36
NG_008145.1:g.32103_32127del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.117+37_117+61del MANE Select	ENSP00000308122.2:n.117+37_117+61del
ENST00000645515.1:c.117+37_117+61del	ENSP00000496421.1:n.117+37_117+61del
ENST00000310018.6:c.117+37_117+61del	ENSP00000308122.2:n.117+37_117+61del
ENST00000353492.4:c.117+37_117+61del	ENSP00000253856.6:n.117+37_117+61del
ENST00000393054.5:c.117+37_117+61del	ENSP00000376774.1:n.117+37_117+61del
ENST00000483139.1:n.366+37_366+61del
NM_020632.2:c.117+37_117+61del	NP_065683.2:n.117+37_117+61del
NM_130840.2:c.117+37_117+61del	NP_570855.2:n.117+37_117+61del
NM_130841.2:c.117+37_117+61del	NP_570856.2:n.117+37_117+61del
XM_005250393.1:c.117+37_117+61del	XP_005250450.1:n.117+37_117+61del
XM_005250394.2:c.117+37_117+61del	XP_005250451.1:n.117+37_117+61del
XM_005250394.3:c.117+37_117+61del	XP_005250451.1:n.117+37_117+61del
NM_020632.3:c.117+37_117+61del MANE Select	NP_065683.2:n.117+37_117+61del
NM_130840.3:c.117+37_117+61del	NP_570855.2:n.117+37_117+61del
NM_130841.3:c.117+37_117+61del	NP_570856.2:n.117+37_117+61del