Canonical Allele Identifier: CA2635688836
Gene: AIPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425519dup , CM000679.2:g.6425519dup GRCh38
NC_000017.10:g.6328839dup , CM000679.1:g.6328839dup GRCh37
NC_000017.9:g.6269563dup NCBI36
NG_008474.1:g.14685dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.1100dup MANE Select ENSP00000370521.3:p.Ala368CysfsTer?
ENST00000250087.9:c.911dup ENSP00000250087.5:p.Ala305CysfsTer?
ENST00000381128.2:c.*972dup ENSP00000370520.2:n.*972dup
ENST00000381129.7:c.1100dup ENSP00000370521.3:p.Ala368CysfsTer?
ENST00000570466.5:c.1034dup ENSP00000461287.1:p.Ala346CysfsTer?
ENST00000570584.5:c.251+8404dup
ENST00000574506.5:c.1064dup ENSP00000458456.1:p.Ala356CysfsTer?
ENST00000575265.5:c.*1071dup ENSP00000459673.1:n.*1071dup
ENST00000576307.5:c.920dup ENSP00000459522.1:p.Ala308CysfsTer?
ENST00000576776.5:c.1028dup ENSP00000460827.1:p.Ala344CysfsTer?
ENST00000621374.4:c.*118dup ENSP00000481337.1:n.*118dup
NM_001033054.2:c.911dup NP_001028226.1:p.Ala305CysfsTer?
NM_001033055.2:c.920dup NP_001028227.1:p.Ala308CysfsTer?
NM_001285399.2:c.1064dup NP_001272328.1:p.Ala356CysfsTer?
NM_001285400.2:c.1034dup NP_001272329.1:p.Ala346CysfsTer?
NM_001285401.2:c.1028dup NP_001272330.1:p.Ala344CysfsTer?
NM_001285402.1:c.983dup NP_001272331.1:p.Ala329CysfsTer?
NM_014336.4:c.1100dup NP_055151.3:p.Ala368CysfsTer?
NM_001033054.3:c.911dup NP_001028226.1:p.Ala305CysfsTer?
NM_001033055.3:c.920dup NP_001028227.1:p.Ala308CysfsTer?
NM_001285399.3:c.1064dup NP_001272328.1:p.Ala356CysfsTer?
NM_001285400.3:c.1034dup NP_001272329.1:p.Ala346CysfsTer?
NM_001285401.3:c.1028dup NP_001272330.1:p.Ala344CysfsTer?
NM_001285402.2:c.983dup NP_001272331.1:p.Ala329CysfsTer?
NM_001285403.3:c.*1071dup NP_001272332.1:n.*1071dup
NM_014336.5:c.1100dup MANE Select NP_055151.3:p.Ala368CysfsTer?
NM_001285403.4:c.*1071dup NP_001272332.1:n.*1071dup