Canonical Allele Identifier: CA2841981218

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425720del , CM000679.2:g.6425720del	GRCh38
NC_000017.10:g.6329040del , CM000679.1:g.6329040del	GRCh37
NC_000017.9:g.6269764del	NCBI36
NG_008474.1:g.14481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.896del MANE Select	ENSP00000370521.3:p.Lys299ArgfsTer7
ENST00000250087.9:c.707del	ENSP00000250087.5:p.Lys236ArgfsTer7
ENST00000381128.2:c.*768del	ENSP00000370520.2:n.*768del
ENST00000381129.7:c.896del	ENSP00000370521.3:p.Lys299ArgfsTer7
ENST00000570466.5:c.830del	ENSP00000461287.1:p.Lys277ArgfsTer7
ENST00000570584.5:c.251+8200del
ENST00000574506.5:c.860del	ENSP00000458456.1:p.Lys287ArgfsTer7
ENST00000575265.5:c.*867del	ENSP00000459673.1:n.*867del
ENST00000576307.5:c.716del	ENSP00000459522.1:p.Lys239ArgfsTer7
ENST00000576776.5:c.824del	ENSP00000460827.1:p.Lys275ArgfsTer7
ENST00000621374.4:c.896del	ENSP00000481337.1:p.Lys299ArgfsTer7
NM_001033054.2:c.707del	NP_001028226.1:p.Lys236ArgfsTer7
NM_001033055.2:c.716del	NP_001028227.1:p.Lys239ArgfsTer7
NM_001285399.2:c.860del	NP_001272328.1:p.Lys287ArgfsTer7
NM_001285400.2:c.830del	NP_001272329.1:p.Lys277ArgfsTer7
NM_001285401.2:c.824del	NP_001272330.1:p.Lys275ArgfsTer7
NM_001285402.1:c.779del	NP_001272331.1:p.Lys260ArgfsTer7
NM_014336.4:c.896del	NP_055151.3:p.Lys299ArgfsTer7
NM_001033054.3:c.707del	NP_001028226.1:p.Lys236ArgfsTer7
NM_001033055.3:c.716del	NP_001028227.1:p.Lys239ArgfsTer7
NM_001285399.3:c.860del	NP_001272328.1:p.Lys287ArgfsTer7
NM_001285400.3:c.830del	NP_001272329.1:p.Lys277ArgfsTer7
NM_001285401.3:c.824del	NP_001272330.1:p.Lys275ArgfsTer7
NM_001285402.2:c.779del	NP_001272331.1:p.Lys260ArgfsTer7
NM_001285403.3:c.*867del	NP_001272332.1:n.*867del
NM_014336.5:c.896del MANE Select	NP_055151.3:p.Lys299ArgfsTer7
NM_001285403.4:c.*867del	NP_001272332.1:n.*867del