Canonical Allele Identifier: CA2838285467
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425657_6425658del , CM000679.2:g.6425657_6425658del GRCh38
NC_000017.10:g.6328977_6328978del , CM000679.1:g.6328977_6328978del GRCh37
NC_000017.9:g.6269701_6269702del NCBI36
NG_008474.1:g.14543_14544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.958_959del MANE Select ENSP00000370521.3:p.Arg320AlafsTer?
ENST00000250087.9:c.769_770del ENSP00000250087.5:p.Arg257AlafsTer?
ENST00000381128.2:c.*830_*831del ENSP00000370520.2:n.*830_*831del
ENST00000381129.7:c.958_959del ENSP00000370521.3:p.Arg320AlafsTer?
ENST00000570466.5:c.892_893del ENSP00000461287.1:p.Arg298AlafsTer?
ENST00000570584.5:c.251+8262_251+8263del
ENST00000574506.5:c.922_923del ENSP00000458456.1:p.Arg308AlafsTer?
ENST00000575265.5:c.*929_*930del ENSP00000459673.1:n.*929_*930del
ENST00000576307.5:c.778_779del ENSP00000459522.1:p.Arg260AlafsTer?
ENST00000576776.5:c.886_887del ENSP00000460827.1:p.Arg296AlafsTer?
ENST00000621374.4:c.957_958del ENSP00000481337.1:p.Ser319ArgfsTer?
NM_001033054.2:c.769_770del NP_001028226.1:p.Arg257AlafsTer?
NM_001033055.2:c.778_779del NP_001028227.1:p.Arg260AlafsTer?
NM_001285399.2:c.922_923del NP_001272328.1:p.Arg308AlafsTer?
NM_001285400.2:c.892_893del NP_001272329.1:p.Arg298AlafsTer?
NM_001285401.2:c.886_887del NP_001272330.1:p.Arg296AlafsTer?
NM_001285402.1:c.841_842del NP_001272331.1:p.Arg281AlafsTer?
NM_014336.4:c.958_959del NP_055151.3:p.Arg320AlafsTer?
NM_001033054.3:c.769_770del NP_001028226.1:p.Arg257AlafsTer?
NM_001033055.3:c.778_779del NP_001028227.1:p.Arg260AlafsTer?
NM_001285399.3:c.922_923del NP_001272328.1:p.Arg308AlafsTer?
NM_001285400.3:c.892_893del NP_001272329.1:p.Arg298AlafsTer?
NM_001285401.3:c.886_887del NP_001272330.1:p.Arg296AlafsTer?
NM_001285402.2:c.841_842del NP_001272331.1:p.Arg281AlafsTer?
NM_001285403.3:c.*929_*930del NP_001272332.1:n.*929_*930del
NM_014336.5:c.958_959del MANE Select NP_055151.3:p.Arg320AlafsTer?
NM_001285403.4:c.*929_*930del NP_001272332.1:n.*929_*930del