Canonical Allele Identifier: CA638286892

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17592819_17592820dup , CM000684.2:g.17592819_17592820dup	GRCh38
NC_000022.10:g.18075585_18075586dup , CM000684.1:g.18075585_18075586dup	GRCh37
NC_000022.9:g.16455585_16455586dup	NCBI36
NG_009214.1:g.41021_41022dup
NG_009214.2:g.41021_41022dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.619-66_619-65dup MANE Select	NP_001687.1:n.619-66_619-65dup
ENST00000253413.10:c.619-66_619-65dup MANE Select	ENSP00000253413.5:n.619-66_619-65dup
NM_001039366.1:c.553-66_553-65dup	NP_001034455.1:n.553-66_553-65dup
NM_001039367.1:c.529-66_529-65dup	NP_001034456.1:n.529-66_529-65dup
NM_001696.3:c.619-66_619-65dup	NP_001687.1:n.619-66_619-65dup
ENST00000253413.9:c.619-66_619-65dup	ENSP00000253413.5:n.619-66_619-65dup
ENST00000399796.6:c.529-66_529-65dup	ENSP00000382694.2:n.529-66_529-65dup
ENST00000399798.6:c.553-66_553-65dup	ENSP00000382696.2:n.553-66_553-65dup
ENST00000473248.1:n.765-66_765-65dup