Canonical Allele Identifier: CA2245346779

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425603_6425605delinsGCT , CM000679.2:g.6425603_6425605delinsGCT	GRCh38
NC_000017.10:g.6328923_6328925delinsGCT , CM000679.1:g.6328923_6328925delinsGCT	GRCh37
NC_000017.9:g.6269647_6269649delinsGCT	NCBI36
NG_008474.1:g.14595_14597delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1010_1012delinsAGC MANE Select	ENSP00000370521.3:p.Glu337=
ENST00000250087.9:c.821_823delinsAGC	ENSP00000250087.5:p.Glu274=
ENST00000381128.2:c.*882_*884delinsAGC	ENSP00000370520.2:n.*882_*884delinsAGC
ENST00000381129.7:c.1010_1012delinsAGC	ENSP00000370521.3:p.Glu337=
ENST00000570466.5:c.944_946delinsAGC	ENSP00000461287.1:p.Glu315=
ENST00000570584.5:c.251+8314_251+8316delinsAGC
ENST00000574506.5:c.974_976delinsAGC	ENSP00000458456.1:p.Glu325=
ENST00000575265.5:c.*981_*983delinsAGC	ENSP00000459673.1:n.*981_*983delinsAGC
ENST00000576307.5:c.830_832delinsAGC	ENSP00000459522.1:p.Glu277=
ENST00000576776.5:c.938_940delinsAGC	ENSP00000460827.1:p.Glu313=
ENST00000621374.4:c.*28_*30delinsAGC	ENSP00000481337.1:n.*28_*30delinsAGC
NM_001033054.2:c.821_823delinsAGC	NP_001028226.1:p.Glu274=
NM_001033055.2:c.830_832delinsAGC	NP_001028227.1:p.Glu277=
NM_001285399.2:c.974_976delinsAGC	NP_001272328.1:p.Glu325=
NM_001285400.2:c.944_946delinsAGC	NP_001272329.1:p.Glu315=
NM_001285401.2:c.938_940delinsAGC	NP_001272330.1:p.Glu313=
NM_001285402.1:c.893_895delinsAGC	NP_001272331.1:p.Glu298=
NM_014336.4:c.1010_1012delinsAGC	NP_055151.3:p.Glu337=
NM_001033054.3:c.821_823delinsAGC	NP_001028226.1:p.Glu274=
NM_001033055.3:c.830_832delinsAGC	NP_001028227.1:p.Glu277=
NM_001285399.3:c.974_976delinsAGC	NP_001272328.1:p.Glu325=
NM_001285400.3:c.944_946delinsAGC	NP_001272329.1:p.Glu315=
NM_001285401.3:c.938_940delinsAGC	NP_001272330.1:p.Glu313=
NM_001285402.2:c.893_895delinsAGC	NP_001272331.1:p.Glu298=
NM_001285403.3:c.*981_*983delinsAGC	NP_001272332.1:n.*981_*983delinsAGC
NM_014336.5:c.1010_1012delinsAGC MANE Select	NP_055151.3:p.Glu337=
NM_001285403.4:c.*981_*983delinsAGC	NP_001272332.1:n.*981_*983delinsAGC