Canonical Allele Identifier: CA2739267789

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17613316_17613318del , CM000684.2:g.17613316_17613318del	GRCh38
NC_000022.10:g.18096082_18096084del , CM000684.1:g.18096082_18096084del	GRCh37
NC_000022.9:g.16476082_16476084del	NCBI36
NG_009214.1:g.20511_20513del
NG_009214.2:g.20511_20513del

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.108_110del MANE Select	NP_001687.1:p.Glu37del
ENST00000253413.10:c.108_110del MANE Select	ENSP00000253413.5:p.Glu37del
NM_001039366.1:c.42_44del	NP_001034455.1:p.Glu15del
NM_001039367.1:c.108_110del	NP_001034456.1:p.Glu37del
NM_001696.3:c.108_110del	NP_001687.1:p.Glu37del
ENST00000253413.9:c.108_110del	ENSP00000253413.5:p.Glu37del
ENST00000399796.6:c.108_110del	ENSP00000382694.2:p.Glu37del
ENST00000399798.6:c.42_44del	ENSP00000382696.2:p.Glu15del
ENST00000413576.1:c.111_113del	ENSP00000398932.1:p.Glu38del
ENST00000460085.1:n.222_224del
ENST00000478963.5:n.221_223del
ENST00000481365.5:n.77_79del
ENST00000484653.5:n.77_79del