Canonical Allele Identifier: CA2963253641

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425467del , CM000679.2:g.6425467del	GRCh38
NC_000017.10:g.6328787del , CM000679.1:g.6328787del	GRCh37
NC_000017.9:g.6269511del	NCBI36
NG_008474.1:g.14733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1148del MANE Select	ENSP00000370521.3:p.Gln383ArgfsTer?
ENST00000250087.9:c.959del	ENSP00000250087.5:p.Gln320ArgfsTer?
ENST00000381128.2:c.*1020del	ENSP00000370520.2:n.*1020del
ENST00000381129.7:c.1148del	ENSP00000370521.3:p.Gln383ArgfsTer?
ENST00000570466.5:c.1082del	ENSP00000461287.1:p.Gln361ArgfsTer?
ENST00000570584.5:c.251+8452del
ENST00000574506.5:c.1112del	ENSP00000458456.1:p.Gln371ArgfsTer?
ENST00000575265.5:c.*1119del	ENSP00000459673.1:n.*1119del
ENST00000576307.5:c.968del	ENSP00000459522.1:p.Gln323ArgfsTer?
ENST00000576776.5:c.1076del	ENSP00000460827.1:p.Gln359ArgfsTer?
ENST00000621374.4:c.*166del	ENSP00000481337.1:n.*166del
NM_001033054.2:c.959del	NP_001028226.1:p.Gln320ArgfsTer?
NM_001033055.2:c.968del	NP_001028227.1:p.Gln323ArgfsTer?
NM_001285399.2:c.1112del	NP_001272328.1:p.Gln371ArgfsTer?
NM_001285400.2:c.1082del	NP_001272329.1:p.Gln361ArgfsTer?
NM_001285401.2:c.1076del	NP_001272330.1:p.Gln359ArgfsTer?
NM_001285402.1:c.1031del	NP_001272331.1:p.Gln344ArgfsTer?
NM_014336.4:c.1148del	NP_055151.3:p.Gln383ArgfsTer?
NM_001033054.3:c.959del	NP_001028226.1:p.Gln320ArgfsTer?
NM_001033055.3:c.968del	NP_001028227.1:p.Gln323ArgfsTer?
NM_001285399.3:c.1112del	NP_001272328.1:p.Gln371ArgfsTer?
NM_001285400.3:c.1082del	NP_001272329.1:p.Gln361ArgfsTer?
NM_001285401.3:c.1076del	NP_001272330.1:p.Gln359ArgfsTer?
NM_001285402.2:c.1031del	NP_001272331.1:p.Gln344ArgfsTer?
NM_001285403.3:c.*1119del	NP_001272332.1:n.*1119del
NM_014336.5:c.1148del MANE Select	NP_055151.3:p.Gln383ArgfsTer?
NM_001285403.4:c.*1119del	NP_001272332.1:n.*1119del