Canonical Allele Identifier: CA2808334167
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425307_6425308dup , CM000679.2:g.6425307_6425308dup GRCh38
NC_000017.10:g.6328627_6328628dup , CM000679.1:g.6328627_6328628dup GRCh37
NC_000017.9:g.6269351_6269352dup NCBI36
NG_008474.1:g.14893_14894dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.*153_*154dup MANE Select ENSP00000370521.3:n.*153_*154dup
ENST00000250087.9:c.*153_*154dup ENSP00000250087.5:n.*153_*154dup
ENST00000381128.2:c.*1180_*1181dup ENSP00000370520.2:n.*1180_*1181dup
ENST00000381129.7:c.*153_*154dup ENSP00000370521.3:n.*153_*154dup
ENST00000570584.5:c.251+8612_251+8613dup
ENST00000574506.5:c.*153_*154dup ENSP00000458456.1:n.*153_*154dup
ENST00000575265.5:c.*1279_*1280dup ENSP00000459673.1:n.*1279_*1280dup
NM_001033054.2:c.*153_*154dup NP_001028226.1:n.*153_*154dup
NM_001033055.2:c.*153_*154dup NP_001028227.1:n.*153_*154dup
NM_001285399.2:c.*153_*154dup NP_001272328.1:n.*153_*154dup
NM_001285400.2:c.*153_*154dup NP_001272329.1:n.*153_*154dup
NM_001285401.2:c.*153_*154dup NP_001272330.1:n.*153_*154dup
NM_001285402.1:c.*153_*154dup NP_001272331.1:n.*153_*154dup
NM_014336.4:c.*153_*154dup NP_055151.3:n.*153_*154dup
NM_001033054.3:c.*153_*154dup NP_001028226.1:n.*153_*154dup
NM_001033055.3:c.*153_*154dup NP_001028227.1:n.*153_*154dup
NM_001285399.3:c.*153_*154dup NP_001272328.1:n.*153_*154dup
NM_001285400.3:c.*153_*154dup NP_001272329.1:n.*153_*154dup
NM_001285401.3:c.*153_*154dup NP_001272330.1:n.*153_*154dup
NM_001285402.2:c.*153_*154dup NP_001272331.1:n.*153_*154dup
NM_001285403.3:c.*1279_*1280dup NP_001272332.1:n.*1279_*1280dup
NM_014336.5:c.*153_*154dup MANE Select NP_055151.3:n.*153_*154dup
NM_001285403.4:c.*1279_*1280dup NP_001272332.1:n.*1279_*1280dup