Canonical Allele Identifier: CA2841981216
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425674_6425675del , CM000679.2:g.6425674_6425675del GRCh38
NC_000017.10:g.6328994_6328995del , CM000679.1:g.6328994_6328995del GRCh37
NC_000017.9:g.6269718_6269719del NCBI36
NG_008474.1:g.14527_14528del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.942_943del MANE Select ENSP00000370521.3:p.Lys315AlafsTer?
ENST00000250087.9:c.753_754del ENSP00000250087.5:p.Lys252AlafsTer?
ENST00000381128.2:c.*814_*815del ENSP00000370520.2:n.*814_*815del
ENST00000381129.7:c.942_943del ENSP00000370521.3:p.Lys315AlafsTer?
ENST00000570466.5:c.876_877del ENSP00000461287.1:p.Lys293AlafsTer?
ENST00000570584.5:c.251+8246_251+8247del
ENST00000574506.5:c.906_907del ENSP00000458456.1:p.Lys303AlafsTer?
ENST00000575265.5:c.*913_*914del ENSP00000459673.1:n.*913_*914del
ENST00000576307.5:c.762_763del ENSP00000459522.1:p.Lys255AlafsTer?
ENST00000576776.5:c.870_871del ENSP00000460827.1:p.Lys291AlafsTer?
ENST00000621374.4:c.941_942del ENSP00000481337.1:p.Arg314LysfsTer?
NM_001033054.2:c.753_754del NP_001028226.1:p.Lys252AlafsTer?
NM_001033055.2:c.762_763del NP_001028227.1:p.Lys255AlafsTer?
NM_001285399.2:c.906_907del NP_001272328.1:p.Lys303AlafsTer?
NM_001285400.2:c.876_877del NP_001272329.1:p.Lys293AlafsTer?
NM_001285401.2:c.870_871del NP_001272330.1:p.Lys291AlafsTer?
NM_001285402.1:c.825_826del NP_001272331.1:p.Lys276AlafsTer?
NM_014336.4:c.942_943del NP_055151.3:p.Lys315AlafsTer?
NM_001033054.3:c.753_754del NP_001028226.1:p.Lys252AlafsTer?
NM_001033055.3:c.762_763del NP_001028227.1:p.Lys255AlafsTer?
NM_001285399.3:c.906_907del NP_001272328.1:p.Lys303AlafsTer?
NM_001285400.3:c.876_877del NP_001272329.1:p.Lys293AlafsTer?
NM_001285401.3:c.870_871del NP_001272330.1:p.Lys291AlafsTer?
NM_001285402.2:c.825_826del NP_001272331.1:p.Lys276AlafsTer?
NM_001285403.3:c.*913_*914del NP_001272332.1:n.*913_*914del
NM_014336.5:c.942_943del MANE Select NP_055151.3:p.Lys315AlafsTer?
NM_001285403.4:c.*913_*914del NP_001272332.1:n.*913_*914del