Canonical Allele Identifier: CA2963253644

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425475dup , CM000679.2:g.6425475dup	GRCh38
NC_000017.10:g.6328795dup , CM000679.1:g.6328795dup	GRCh37
NC_000017.9:g.6269519dup	NCBI36
NG_008474.1:g.14725dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1140dup MANE Select	ENSP00000370521.3:p.Ser381LeufsTer27
ENST00000250087.9:c.951dup	ENSP00000250087.5:p.Ser318LeufsTer27
ENST00000381128.2:c.*1012dup	ENSP00000370520.2:n.*1012dup
ENST00000381129.7:c.1140dup	ENSP00000370521.3:p.Ser381LeufsTer27
ENST00000570466.5:c.1074dup	ENSP00000461287.1:p.Ser359LeufsTer?
ENST00000570584.5:c.251+8444dup
ENST00000574506.5:c.1104dup	ENSP00000458456.1:p.Ser369LeufsTer27
ENST00000575265.5:c.*1111dup	ENSP00000459673.1:n.*1111dup
ENST00000576307.5:c.960dup	ENSP00000459522.1:p.Ser321LeufsTer?
ENST00000576776.5:c.1068dup	ENSP00000460827.1:p.Ser357LeufsTer?
ENST00000621374.4:c.*158dup	ENSP00000481337.1:n.*158dup
NM_001033054.2:c.951dup	NP_001028226.1:p.Ser318LeufsTer27
NM_001033055.2:c.960dup	NP_001028227.1:p.Ser321LeufsTer27
NM_001285399.2:c.1104dup	NP_001272328.1:p.Ser369LeufsTer27
NM_001285400.2:c.1074dup	NP_001272329.1:p.Ser359LeufsTer27
NM_001285401.2:c.1068dup	NP_001272330.1:p.Ser357LeufsTer27
NM_001285402.1:c.1023dup	NP_001272331.1:p.Ser342LeufsTer27
NM_014336.4:c.1140dup	NP_055151.3:p.Ser381LeufsTer27
NM_001033054.3:c.951dup	NP_001028226.1:p.Ser318LeufsTer27
NM_001033055.3:c.960dup	NP_001028227.1:p.Ser321LeufsTer27
NM_001285399.3:c.1104dup	NP_001272328.1:p.Ser369LeufsTer27
NM_001285400.3:c.1074dup	NP_001272329.1:p.Ser359LeufsTer27
NM_001285401.3:c.1068dup	NP_001272330.1:p.Ser357LeufsTer27
NM_001285402.2:c.1023dup	NP_001272331.1:p.Ser342LeufsTer27
NM_001285403.3:c.*1111dup	NP_001272332.1:n.*1111dup
NM_014336.5:c.1140dup MANE Select	NP_055151.3:p.Ser381LeufsTer27
NM_001285403.4:c.*1111dup	NP_001272332.1:n.*1111dup