Canonical Allele Identifier: CA117602
Gene: AIPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5568
dbSNP Id: rs281865195

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425561_6425572del , CM000679.2:g.6425561_6425572del GRCh38
NC_000017.10:g.6328881_6328892del , CM000679.1:g.6328881_6328892del GRCh37
NC_000017.9:g.6269605_6269616del NCBI36
NG_008474.1:g.14638_14649del

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1053_1064del MANE Select ENSP00000370521.3:p.Ala352_Pro355del
ENST00000250087.9:c.864_875del ENSP00000250087.5:p.Ala289_Pro292del
ENST00000381128.2:c.*925_*936del ENSP00000370520.2:p.=
ENST00000381129.7:c.1053_1064del ENSP00000370521.3:p.Ala352_Pro355del
ENST00000570466.5:c.987_998del ENSP00000461287.1:p.Ala330_Pro333del
ENST00000570584.5:n.251+8357_251+8368del
ENST00000574506.5:c.1017_1028del ENSP00000458456.1:p.Ala340_Pro343del
ENST00000575265.5:c.*1024_*1035del ENSP00000459673.1:p.=
ENST00000576307.5:c.873_884del ENSP00000459522.1:p.Ala292_Pro295del
ENST00000576776.5:c.981_992del ENSP00000460827.1:p.Ala328_Pro331del
ENST00000621374.4:c.*71_*82del ENSP00000481337.1:p.=
NM_001033054.2:c.864_875del NP_001028226.1:p.Ala289_Pro292del
NM_001033055.2:c.873_884del NP_001028227.1:p.Ala292_Pro295del
NM_001285399.2:c.1017_1028del NP_001272328.1:p.Ala340_Pro343del
NM_001285400.2:c.987_998del NP_001272329.1:p.Ala330_Pro333del
NM_001285401.2:c.981_992del NP_001272330.1:p.Ala328_Pro331del
NM_001285402.1:c.936_947del NP_001272331.1:p.Ala313_Pro316del
NM_014336.4:c.1053_1064del NP_055151.3:p.Ala352_Pro355del
NM_001033054.3:c.864_875del NP_001028226.1:p.Ala289_Pro292del
NM_001033055.3:c.873_884del NP_001028227.1:p.Ala292_Pro295del
NM_001285399.3:c.1017_1028del NP_001272328.1:p.Ala340_Pro343del
NM_001285400.3:c.987_998del NP_001272329.1:p.Ala330_Pro333del
NM_001285401.3:c.981_992del NP_001272330.1:p.Ala328_Pro331del
NM_001285402.2:c.936_947del NP_001272331.1:p.Ala313_Pro316del
NM_001285403.3:c.*1024_*1035del NP_001272332.1:p.=
NM_014336.5:c.1053_1064del MANE Select NP_055151.3:p.Ala352_Pro355del
NM_001285403.4:c.*1024_*1035del NP_001272332.1:p.=