Canonical Allele Identifier: CA2963253643
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425469_6425470del , CM000679.2:g.6425469_6425470del GRCh38
NC_000017.10:g.6328789_6328790del , CM000679.1:g.6328789_6328790del GRCh37
NC_000017.9:g.6269513_6269514del NCBI36
NG_008474.1:g.14730_14731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.1145_1146del MANE Select ENSP00000370521.3:p.Leu382ProfsTer25
ENST00000250087.9:c.956_957del ENSP00000250087.5:p.Leu319ProfsTer25
ENST00000381128.2:c.*1017_*1018del ENSP00000370520.2:n.*1017_*1018del
ENST00000381129.7:c.1145_1146del ENSP00000370521.3:p.Leu382ProfsTer25
ENST00000570466.5:c.1079_1080del ENSP00000461287.1:p.Leu360ProfsTer?
ENST00000570584.5:c.251+8449_251+8450del
ENST00000574506.5:c.1109_1110del ENSP00000458456.1:p.Leu370ProfsTer25
ENST00000575265.5:c.*1116_*1117del ENSP00000459673.1:n.*1116_*1117del
ENST00000576307.5:c.965_966del ENSP00000459522.1:p.Leu322ProfsTer?
ENST00000576776.5:c.1073_1074del ENSP00000460827.1:p.Leu358ProfsTer?
ENST00000621374.4:c.*163_*164del ENSP00000481337.1:n.*163_*164del
NM_001033054.2:c.956_957del NP_001028226.1:p.Leu319ProfsTer25
NM_001033055.2:c.965_966del NP_001028227.1:p.Leu322ProfsTer25
NM_001285399.2:c.1109_1110del NP_001272328.1:p.Leu370ProfsTer25
NM_001285400.2:c.1079_1080del NP_001272329.1:p.Leu360ProfsTer25
NM_001285401.2:c.1073_1074del NP_001272330.1:p.Leu358ProfsTer25
NM_001285402.1:c.1028_1029del NP_001272331.1:p.Leu343ProfsTer25
NM_014336.4:c.1145_1146del NP_055151.3:p.Leu382ProfsTer25
NM_001033054.3:c.956_957del NP_001028226.1:p.Leu319ProfsTer25
NM_001033055.3:c.965_966del NP_001028227.1:p.Leu322ProfsTer25
NM_001285399.3:c.1109_1110del NP_001272328.1:p.Leu370ProfsTer25
NM_001285400.3:c.1079_1080del NP_001272329.1:p.Leu360ProfsTer25
NM_001285401.3:c.1073_1074del NP_001272330.1:p.Leu358ProfsTer25
NM_001285402.2:c.1028_1029del NP_001272331.1:p.Leu343ProfsTer25
NM_001285403.3:c.*1116_*1117del NP_001272332.1:n.*1116_*1117del
NM_014336.5:c.1145_1146del MANE Select NP_055151.3:p.Leu382ProfsTer25
NM_001285403.4:c.*1116_*1117del NP_001272332.1:n.*1116_*1117del