Canonical Allele Identifier: CA2963253662
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425570_6425571del , CM000679.2:g.6425570_6425571del GRCh38
NC_000017.10:g.6328890_6328891del , CM000679.1:g.6328890_6328891del GRCh37
NC_000017.9:g.6269614_6269615del NCBI36
NG_008474.1:g.14631_14632del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.1046_1047del MANE Select ENSP00000370521.3:p.Glu349AlafsTer?
ENST00000250087.9:c.857_858del ENSP00000250087.5:p.Glu286AlafsTer?
ENST00000381128.2:c.*918_*919del ENSP00000370520.2:n.*918_*919del
ENST00000381129.7:c.1046_1047del ENSP00000370521.3:p.Glu349AlafsTer?
ENST00000570466.5:c.980_981del ENSP00000461287.1:p.Glu327AlafsTer?
ENST00000570584.5:c.251+8350_251+8351del
ENST00000574506.5:c.1010_1011del ENSP00000458456.1:p.Glu337AlafsTer?
ENST00000575265.5:c.*1017_*1018del ENSP00000459673.1:n.*1017_*1018del
ENST00000576307.5:c.866_867del ENSP00000459522.1:p.Glu289AlafsTer?
ENST00000576776.5:c.974_975del ENSP00000460827.1:p.Glu325AlafsTer?
ENST00000621374.4:c.*64_*65del ENSP00000481337.1:n.*64_*65del
NM_001033054.2:c.857_858del NP_001028226.1:p.Glu286AlafsTer?
NM_001033055.2:c.866_867del NP_001028227.1:p.Glu289AlafsTer?
NM_001285399.2:c.1010_1011del NP_001272328.1:p.Glu337AlafsTer?
NM_001285400.2:c.980_981del NP_001272329.1:p.Glu327AlafsTer?
NM_001285401.2:c.974_975del NP_001272330.1:p.Glu325AlafsTer?
NM_001285402.1:c.929_930del NP_001272331.1:p.Glu310AlafsTer?
NM_014336.4:c.1046_1047del NP_055151.3:p.Glu349AlafsTer?
NM_001033054.3:c.857_858del NP_001028226.1:p.Glu286AlafsTer?
NM_001033055.3:c.866_867del NP_001028227.1:p.Glu289AlafsTer?
NM_001285399.3:c.1010_1011del NP_001272328.1:p.Glu337AlafsTer?
NM_001285400.3:c.980_981del NP_001272329.1:p.Glu327AlafsTer?
NM_001285401.3:c.974_975del NP_001272330.1:p.Glu325AlafsTer?
NM_001285402.2:c.929_930del NP_001272331.1:p.Glu310AlafsTer?
NM_001285403.3:c.*1017_*1018del NP_001272332.1:n.*1017_*1018del
NM_014336.5:c.1046_1047del MANE Select NP_055151.3:p.Glu349AlafsTer?
NM_001285403.4:c.*1017_*1018del NP_001272332.1:n.*1017_*1018del