Canonical Allele Identifier: CA2963253659
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425560_6425561del , CM000679.2:g.6425560_6425561del GRCh38
NC_000017.10:g.6328880_6328881del , CM000679.1:g.6328880_6328881del GRCh37
NC_000017.9:g.6269604_6269605del NCBI36
NG_008474.1:g.14639_14640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.1054_1055del MANE Select ENSP00000370521.3:p.Ala352ArgfsTer?
ENST00000250087.9:c.865_866del ENSP00000250087.5:p.Ala289ArgfsTer?
ENST00000381128.2:c.*926_*927del ENSP00000370520.2:n.*926_*927del
ENST00000381129.7:c.1054_1055del ENSP00000370521.3:p.Ala352ArgfsTer?
ENST00000570466.5:c.988_989del ENSP00000461287.1:p.Ala330ArgfsTer?
ENST00000570584.5:c.251+8358_251+8359del
ENST00000574506.5:c.1018_1019del ENSP00000458456.1:p.Ala340ArgfsTer?
ENST00000575265.5:c.*1025_*1026del ENSP00000459673.1:n.*1025_*1026del
ENST00000576307.5:c.874_875del ENSP00000459522.1:p.Ala292ArgfsTer?
ENST00000576776.5:c.982_983del ENSP00000460827.1:p.Ala328ArgfsTer?
ENST00000621374.4:c.*72_*73del ENSP00000481337.1:n.*72_*73del
NM_001033054.2:c.865_866del NP_001028226.1:p.Ala289ArgfsTer?
NM_001033055.2:c.874_875del NP_001028227.1:p.Ala292ArgfsTer?
NM_001285399.2:c.1018_1019del NP_001272328.1:p.Ala340ArgfsTer?
NM_001285400.2:c.988_989del NP_001272329.1:p.Ala330ArgfsTer?
NM_001285401.2:c.982_983del NP_001272330.1:p.Ala328ArgfsTer?
NM_001285402.1:c.937_938del NP_001272331.1:p.Ala313ArgfsTer?
NM_014336.4:c.1054_1055del NP_055151.3:p.Ala352ArgfsTer?
NM_001033054.3:c.865_866del NP_001028226.1:p.Ala289ArgfsTer?
NM_001033055.3:c.874_875del NP_001028227.1:p.Ala292ArgfsTer?
NM_001285399.3:c.1018_1019del NP_001272328.1:p.Ala340ArgfsTer?
NM_001285400.3:c.988_989del NP_001272329.1:p.Ala330ArgfsTer?
NM_001285401.3:c.982_983del NP_001272330.1:p.Ala328ArgfsTer?
NM_001285402.2:c.937_938del NP_001272331.1:p.Ala313ArgfsTer?
NM_001285403.3:c.*1025_*1026del NP_001272332.1:n.*1025_*1026del
NM_014336.5:c.1054_1055del MANE Select NP_055151.3:p.Ala352ArgfsTer?
NM_001285403.4:c.*1025_*1026del NP_001272332.1:n.*1025_*1026del