Canonical Allele Identifier: CA2838285451

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425569dup , CM000679.2:g.6425569dup	GRCh38
NC_000017.10:g.6328889dup , CM000679.1:g.6328889dup	GRCh37
NC_000017.9:g.6269613dup	NCBI36
NG_008474.1:g.14631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1046dup MANE Select	ENSP00000370521.3:p.Pro350AlafsTer?
ENST00000250087.9:c.857dup	ENSP00000250087.5:p.Pro287AlafsTer?
ENST00000381128.2:c.*918dup	ENSP00000370520.2:n.*918dup
ENST00000381129.7:c.1046dup	ENSP00000370521.3:p.Pro350AlafsTer?
ENST00000570466.5:c.980dup	ENSP00000461287.1:p.Pro328AlafsTer?
ENST00000570584.5:c.251+8350dup
ENST00000574506.5:c.1010dup	ENSP00000458456.1:p.Pro338AlafsTer?
ENST00000575265.5:c.*1017dup	ENSP00000459673.1:n.*1017dup
ENST00000576307.5:c.866dup	ENSP00000459522.1:p.Pro290AlafsTer?
ENST00000576776.5:c.974dup	ENSP00000460827.1:p.Pro326AlafsTer?
ENST00000621374.4:c.*64dup	ENSP00000481337.1:n.*64dup
NM_001033054.2:c.857dup	NP_001028226.1:p.Pro287AlafsTer?
NM_001033055.2:c.866dup	NP_001028227.1:p.Pro290AlafsTer?
NM_001285399.2:c.1010dup	NP_001272328.1:p.Pro338AlafsTer?
NM_001285400.2:c.980dup	NP_001272329.1:p.Pro328AlafsTer?
NM_001285401.2:c.974dup	NP_001272330.1:p.Pro326AlafsTer?
NM_001285402.1:c.929dup	NP_001272331.1:p.Pro311AlafsTer?
NM_014336.4:c.1046dup	NP_055151.3:p.Pro350AlafsTer?
NM_001033054.3:c.857dup	NP_001028226.1:p.Pro287AlafsTer?
NM_001033055.3:c.866dup	NP_001028227.1:p.Pro290AlafsTer?
NM_001285399.3:c.1010dup	NP_001272328.1:p.Pro338AlafsTer?
NM_001285400.3:c.980dup	NP_001272329.1:p.Pro328AlafsTer?
NM_001285401.3:c.974dup	NP_001272330.1:p.Pro326AlafsTer?
NM_001285402.2:c.929dup	NP_001272331.1:p.Pro311AlafsTer?
NM_001285403.3:c.*1017dup	NP_001272332.1:n.*1017dup
NM_014336.5:c.1046dup MANE Select	NP_055151.3:p.Pro350AlafsTer?
NM_001285403.4:c.*1017dup	NP_001272332.1:n.*1017dup