Canonical Allele Identifier: CA2566568142

Gene: ATP6AP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154435269_154435270insATGGCCTCTT , CM000685.2:g.154435269_154435270insATGGCCTCTT	GRCh38
NC_000023.10:g.153663615_153663616insATGGCCTCTT , CM000685.1:g.153663615_153663616insATGGCCTCTT	GRCh37
NC_000023.9:g.153316809_153316810insATGGCCTCTT	NCBI36
NG_008954.1:g.3357_3358insATGGCCTCTT
NG_052807.1:g.11638_11639insATGGCCTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369762.7:c.972-5_972-4insATGGCCTCTT MANE Select	ENSP00000358777.2:n.972-5_972-4insATGGCCTCTT
ENST00000439372.6:c.*934-5_*934-4insATGGCCTCTT	ENSP00000408317.1:n.*934-5_*934-4insATGGCCTCTT
ENST00000484908.2:n.1498-5_1498-4insATGGCCTCTT
ENST00000619046.5:c.588-5_588-4insATGGCCTCTT	ENSP00000482243.2:n.588-5_588-4insATGGCCTCTT
ENST00000677332.1:c.907-5_907-4insATGGCCTCTT	ENSP00000502914.1:n.907-5_907-4insATGGCCTCTT
ENST00000677342.1:c.*250-5_*250-4insATGGCCTCTT	ENSP00000503173.1:n.*250-5_*250-4insATGGCCTCTT
ENST00000678317.1:n.1504-5_1504-4insATGGCCTCTT
ENST00000679241.1:c.*38-5_*38-4insATGGCCTCTT	ENSP00000503588.1:n.*38-5_*38-4insATGGCCTCTT
ENST00000369762.6:c.972-5_972-4insATGGCCTCTT	ENSP00000358777.2:n.972-5_972-4insATGGCCTCTT
ENST00000422890.5:c.714-5_714-4insATGGCCTCTT	ENSP00000398511.1:n.714-5_714-4insATGGCCTCTT
ENST00000429585.5:c.664-5_664-4insATGGCCTCTT	ENSP00000408470.1:n.664-5_664-4insATGGCCTCTT
ENST00000455205.5:c.3450-5_3450-4insATGGCCTCTT
ENST00000491569.5:n.1014-5_1014-4insATGGCCTCTT
ENST00000619046.4:c.405-5_405-4insATGGCCTCTT	ENSP00000482243.1:n.405-5_405-4insATGGCCTCTT
NM_001183.5:c.972-5_972-4insATGGCCTCTT	NP_001174.2:n.972-5_972-4insATGGCCTCTT
XM_011531179.1:c.405-5_405-4insATGGCCTCTT	XP_011529481.1:n.405-5_405-4insATGGCCTCTT
NM_001183.6:c.972-5_972-4insATGGCCTCTT MANE Select	NP_001174.2:n.972-5_972-4insATGGCCTCTT