Canonical Allele Identifier: CA2963253655
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425561_6425596del , CM000679.2:g.6425561_6425596del GRCh38
NC_000017.10:g.6328881_6328916del , CM000679.1:g.6328881_6328916del GRCh37
NC_000017.9:g.6269605_6269640del NCBI36
NG_008474.1:g.14615_14650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.1030_1065del MANE Select ENSP00000370521.3:p.Ala344_Pro355del
ENST00000250087.9:c.841_876del ENSP00000250087.5:p.Ala281_Pro292del
ENST00000381128.2:c.*902_*937del ENSP00000370520.2:n.*902_*937del
ENST00000381129.7:c.1030_1065del ENSP00000370521.3:p.Ala344_Pro355del
ENST00000570466.5:c.964_999del ENSP00000461287.1:p.Ala322_Pro333del
ENST00000570584.5:c.251+8334_251+8369del
ENST00000574506.5:c.994_1029del ENSP00000458456.1:p.Ala332_Pro343del
ENST00000575265.5:c.*1001_*1036del ENSP00000459673.1:n.*1001_*1036del
ENST00000576307.5:c.850_885del ENSP00000459522.1:p.Ala284_Pro295del
ENST00000576776.5:c.958_993del ENSP00000460827.1:p.Ala320_Pro331del
ENST00000621374.4:c.*48_*83del ENSP00000481337.1:n.*48_*83del
NM_001033054.2:c.841_876del NP_001028226.1:p.Ala281_Pro292del
NM_001033055.2:c.850_885del NP_001028227.1:p.Ala284_Pro295del
NM_001285399.2:c.994_1029del NP_001272328.1:p.Ala332_Pro343del
NM_001285400.2:c.964_999del NP_001272329.1:p.Ala322_Pro333del
NM_001285401.2:c.958_993del NP_001272330.1:p.Ala320_Pro331del
NM_001285402.1:c.913_948del NP_001272331.1:p.Ala305_Pro316del
NM_014336.4:c.1030_1065del NP_055151.3:p.Ala344_Pro355del
NM_001033054.3:c.841_876del NP_001028226.1:p.Ala281_Pro292del
NM_001033055.3:c.850_885del NP_001028227.1:p.Ala284_Pro295del
NM_001285399.3:c.994_1029del NP_001272328.1:p.Ala332_Pro343del
NM_001285400.3:c.964_999del NP_001272329.1:p.Ala322_Pro333del
NM_001285401.3:c.958_993del NP_001272330.1:p.Ala320_Pro331del
NM_001285402.2:c.913_948del NP_001272331.1:p.Ala305_Pro316del
NM_001285403.3:c.*1001_*1036del NP_001272332.1:n.*1001_*1036del
NM_014336.5:c.1030_1065del MANE Select NP_055151.3:p.Ala344_Pro355del
NM_001285403.4:c.*1001_*1036del NP_001272332.1:n.*1001_*1036del