Canonical Allele Identifier: CA2527199511

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425585-CGGGTGGCTCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425597_6425608del , CM000679.2:g.6425597_6425608del	GRCh38
NC_000017.10:g.6328917_6328928del , CM000679.1:g.6328917_6328928del	GRCh37
NC_000017.9:g.6269641_6269652del	NCBI36
NG_008474.1:g.14603_14614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1018_1029del MANE Select	ENSP00000370521.3:p.Thr340_Pro343del
ENST00000250087.9:c.829_840del	ENSP00000250087.5:p.Thr277_Pro280del
ENST00000381128.2:c.*890_*901del	ENSP00000370520.2:n.*890_*901del
ENST00000381129.7:c.1018_1029del	ENSP00000370521.3:p.Thr340_Pro343del
ENST00000570466.5:c.952_963del	ENSP00000461287.1:p.Thr318_Pro321del
ENST00000570584.5:c.251+8322_251+8333del
ENST00000574506.5:c.982_993del	ENSP00000458456.1:p.Thr328_Pro331del
ENST00000575265.5:c.*989_*1000del	ENSP00000459673.1:n.*989_*1000del
ENST00000576307.5:c.838_849del	ENSP00000459522.1:p.Thr280_Pro283del
ENST00000576776.5:c.946_957del	ENSP00000460827.1:p.Thr316_Pro319del
ENST00000621374.4:c.*36_*47del	ENSP00000481337.1:n.*36_*47del
NM_001033054.2:c.829_840del	NP_001028226.1:p.Thr277_Pro280del
NM_001033055.2:c.838_849del	NP_001028227.1:p.Thr280_Pro283del
NM_001285399.2:c.982_993del	NP_001272328.1:p.Thr328_Pro331del
NM_001285400.2:c.952_963del	NP_001272329.1:p.Thr318_Pro321del
NM_001285401.2:c.946_957del	NP_001272330.1:p.Thr316_Pro319del
NM_001285402.1:c.901_912del	NP_001272331.1:p.Thr301_Pro304del
NM_014336.4:c.1018_1029del	NP_055151.3:p.Thr340_Pro343del
NM_001033054.3:c.829_840del	NP_001028226.1:p.Thr277_Pro280del
NM_001033055.3:c.838_849del	NP_001028227.1:p.Thr280_Pro283del
NM_001285399.3:c.982_993del	NP_001272328.1:p.Thr328_Pro331del
NM_001285400.3:c.952_963del	NP_001272329.1:p.Thr318_Pro321del
NM_001285401.3:c.946_957del	NP_001272330.1:p.Thr316_Pro319del
NM_001285402.2:c.901_912del	NP_001272331.1:p.Thr301_Pro304del
NM_001285403.3:c.*989_*1000del	NP_001272332.1:n.*989_*1000del
NM_014336.5:c.1018_1029del MANE Select	NP_055151.3:p.Thr340_Pro343del
NM_001285403.4:c.*989_*1000del	NP_001272332.1:n.*989_*1000del