Canonical Allele Identifier: CA2635688833

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425498-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425501_6425502dup , CM000679.2:g.6425501_6425502dup	GRCh38
NC_000017.10:g.6328821_6328822dup , CM000679.1:g.6328821_6328822dup	GRCh37
NC_000017.9:g.6269545_6269546dup	NCBI36
NG_008474.1:g.14700_14701dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1115_1116dup MANE Select	ENSP00000370521.3:p.Glu373GlnfsTer?
ENST00000250087.9:c.926_927dup	ENSP00000250087.5:p.Glu310GlnfsTer?
ENST00000381128.2:c.*987_*988dup	ENSP00000370520.2:n.*987_*988dup
ENST00000381129.7:c.1115_1116dup	ENSP00000370521.3:p.Glu373GlnfsTer?
ENST00000570466.5:c.1049_1050dup	ENSP00000461287.1:p.Glu351GlnfsTer?
ENST00000570584.5:c.251+8419_251+8420dup
ENST00000574506.5:c.1079_1080dup	ENSP00000458456.1:p.Glu361GlnfsTer?
ENST00000575265.5:c.*1086_*1087dup	ENSP00000459673.1:n.*1086_*1087dup
ENST00000576307.5:c.935_936dup	ENSP00000459522.1:p.Glu313GlnfsTer?
ENST00000576776.5:c.1043_1044dup	ENSP00000460827.1:p.Glu349GlnfsTer?
ENST00000621374.4:c.*133_*134dup	ENSP00000481337.1:n.*133_*134dup
NM_001033054.2:c.926_927dup	NP_001028226.1:p.Glu310GlnfsTer?
NM_001033055.2:c.935_936dup	NP_001028227.1:p.Glu313GlnfsTer?
NM_001285399.2:c.1079_1080dup	NP_001272328.1:p.Glu361GlnfsTer?
NM_001285400.2:c.1049_1050dup	NP_001272329.1:p.Glu351GlnfsTer?
NM_001285401.2:c.1043_1044dup	NP_001272330.1:p.Glu349GlnfsTer?
NM_001285402.1:c.998_999dup	NP_001272331.1:p.Glu334GlnfsTer?
NM_014336.4:c.1115_1116dup	NP_055151.3:p.Glu373GlnfsTer?
NM_001033054.3:c.926_927dup	NP_001028226.1:p.Glu310GlnfsTer?
NM_001033055.3:c.935_936dup	NP_001028227.1:p.Glu313GlnfsTer?
NM_001285399.3:c.1079_1080dup	NP_001272328.1:p.Glu361GlnfsTer?
NM_001285400.3:c.1049_1050dup	NP_001272329.1:p.Glu351GlnfsTer?
NM_001285401.3:c.1043_1044dup	NP_001272330.1:p.Glu349GlnfsTer?
NM_001285402.2:c.998_999dup	NP_001272331.1:p.Glu334GlnfsTer?
NM_001285403.3:c.*1086_*1087dup	NP_001272332.1:n.*1086_*1087dup
NM_014336.5:c.1115_1116dup MANE Select	NP_055151.3:p.Glu373GlnfsTer?
NM_001285403.4:c.*1086_*1087dup	NP_001272332.1:n.*1086_*1087dup