Canonical Allele Identifier: CA2808334141
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425241_6425242del , CM000679.2:g.6425241_6425242del GRCh38
NC_000017.10:g.6328561_6328562del , CM000679.1:g.6328561_6328562del GRCh37
NC_000017.9:g.6269285_6269286del NCBI36
NG_008474.1:g.14958_14959del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.*218_*219del MANE Select ENSP00000370521.3:n.*218_*219del
ENST00000250087.9:c.*218_*219del ENSP00000250087.5:n.*218_*219del
ENST00000381128.2:c.*1245_*1246del ENSP00000370520.2:n.*1245_*1246del
ENST00000381129.7:c.*218_*219del ENSP00000370521.3:n.*218_*219del
ENST00000570584.5:c.251+8677_251+8678del
ENST00000574506.5:c.*218_*219del ENSP00000458456.1:n.*218_*219del
NM_001033054.2:c.*218_*219del NP_001028226.1:n.*218_*219del
NM_001033055.2:c.*218_*219del NP_001028227.1:n.*218_*219del
NM_001285399.2:c.*218_*219del NP_001272328.1:n.*218_*219del
NM_001285400.2:c.*218_*219del NP_001272329.1:n.*218_*219del
NM_001285401.2:c.*218_*219del NP_001272330.1:n.*218_*219del
NM_001285402.1:c.*218_*219del NP_001272331.1:n.*218_*219del
NM_014336.4:c.*218_*219del NP_055151.3:n.*218_*219del
NM_001033054.3:c.*218_*219del NP_001028226.1:n.*218_*219del
NM_001033055.3:c.*218_*219del NP_001028227.1:n.*218_*219del
NM_001285399.3:c.*218_*219del NP_001272328.1:n.*218_*219del
NM_001285400.3:c.*218_*219del NP_001272329.1:n.*218_*219del
NM_001285401.3:c.*218_*219del NP_001272330.1:n.*218_*219del
NM_001285402.2:c.*218_*219del NP_001272331.1:n.*218_*219del
NM_014336.5:c.*218_*219del MANE Select NP_055151.3:n.*218_*219del