Canonical Allele Identifier: CA10090233

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17619541del , CM000684.2:g.17619541del	GRCh38
NC_000022.10:g.18102307del , CM000684.1:g.18102307del	GRCh37
NC_000022.9:g.16482307del	NCBI36
NG_009214.1:g.14288del
NG_009214.2:g.14288del

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.34-9del MANE Select	NP_001687.1:n.34-9del
ENST00000253413.10:c.34-9del MANE Select	ENSP00000253413.5:n.34-9del
NM_001039366.1:c.34-6215del	NP_001034455.1:n.34-6215del
NM_001039367.1:c.34-9del	NP_001034456.1:n.34-9del
NM_001696.3:c.34-9del	NP_001687.1:n.34-9del
ENST00000253413.9:c.34-9del	ENSP00000253413.5:n.34-9del
ENST00000399796.6:c.34-9del	ENSP00000382694.2:n.34-9del
ENST00000399798.6:c.34-6215del	ENSP00000382696.2:n.34-6215del
ENST00000413576.1:c.-58-9del	ENSP00000398932.1:n.-58-9del
ENST00000460085.1:n.148-9del
ENST00000478963.5:n.147-9del