Canonical Allele Identifier: CA2963253660

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425567del , CM000679.2:g.6425567del	GRCh38
NC_000017.10:g.6328887del , CM000679.1:g.6328887del	GRCh37
NC_000017.9:g.6269611del	NCBI36
NG_008474.1:g.14634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1049del MANE Select	ENSP00000370521.3:p.Pro350HisfsTer?
ENST00000250087.9:c.860del	ENSP00000250087.5:p.Pro287HisfsTer?
ENST00000381128.2:c.*921del	ENSP00000370520.2:n.*921del
ENST00000381129.7:c.1049del	ENSP00000370521.3:p.Pro350HisfsTer?
ENST00000570466.5:c.983del	ENSP00000461287.1:p.Pro328HisfsTer?
ENST00000570584.5:c.251+8353del
ENST00000574506.5:c.1013del	ENSP00000458456.1:p.Pro338HisfsTer?
ENST00000575265.5:c.*1020del	ENSP00000459673.1:n.*1020del
ENST00000576307.5:c.869del	ENSP00000459522.1:p.Pro290HisfsTer?
ENST00000576776.5:c.977del	ENSP00000460827.1:p.Pro326HisfsTer?
ENST00000621374.4:c.*67del	ENSP00000481337.1:n.*67del
NM_001033054.2:c.860del	NP_001028226.1:p.Pro287HisfsTer?
NM_001033055.2:c.869del	NP_001028227.1:p.Pro290HisfsTer?
NM_001285399.2:c.1013del	NP_001272328.1:p.Pro338HisfsTer?
NM_001285400.2:c.983del	NP_001272329.1:p.Pro328HisfsTer?
NM_001285401.2:c.977del	NP_001272330.1:p.Pro326HisfsTer?
NM_001285402.1:c.932del	NP_001272331.1:p.Pro311HisfsTer?
NM_014336.4:c.1049del	NP_055151.3:p.Pro350HisfsTer?
NM_001033054.3:c.860del	NP_001028226.1:p.Pro287HisfsTer?
NM_001033055.3:c.869del	NP_001028227.1:p.Pro290HisfsTer?
NM_001285399.3:c.1013del	NP_001272328.1:p.Pro338HisfsTer?
NM_001285400.3:c.983del	NP_001272329.1:p.Pro328HisfsTer?
NM_001285401.3:c.977del	NP_001272330.1:p.Pro326HisfsTer?
NM_001285402.2:c.932del	NP_001272331.1:p.Pro311HisfsTer?
NM_001285403.3:c.*1020del	NP_001272332.1:n.*1020del
NM_014336.5:c.1049del MANE Select	NP_055151.3:p.Pro350HisfsTer?
NM_001285403.4:c.*1020del	NP_001272332.1:n.*1020del