Canonical Allele Identifier: CA2635688831

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425481-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425485del , CM000679.2:g.6425485del	GRCh38
NC_000017.10:g.6328805del , CM000679.1:g.6328805del	GRCh37
NC_000017.9:g.6269529del	NCBI36
NG_008474.1:g.14718del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1133del MANE Select	ENSP00000370521.3:p.Pro378GlnfsTer?
ENST00000250087.9:c.944del	ENSP00000250087.5:p.Pro315GlnfsTer?
ENST00000381128.2:c.*1005del	ENSP00000370520.2:n.*1005del
ENST00000381129.7:c.1133del	ENSP00000370521.3:p.Pro378GlnfsTer?
ENST00000570466.5:c.1067del	ENSP00000461287.1:p.Pro356GlnfsTer?
ENST00000570584.5:c.251+8437del
ENST00000574506.5:c.1097del	ENSP00000458456.1:p.Pro366GlnfsTer?
ENST00000575265.5:c.*1104del	ENSP00000459673.1:n.*1104del
ENST00000576307.5:c.953del	ENSP00000459522.1:p.Pro318GlnfsTer?
ENST00000576776.5:c.1061del	ENSP00000460827.1:p.Pro354GlnfsTer?
ENST00000621374.4:c.*151del	ENSP00000481337.1:n.*151del
NM_001033054.2:c.944del	NP_001028226.1:p.Pro315GlnfsTer?
NM_001033055.2:c.953del	NP_001028227.1:p.Pro318GlnfsTer?
NM_001285399.2:c.1097del	NP_001272328.1:p.Pro366GlnfsTer?
NM_001285400.2:c.1067del	NP_001272329.1:p.Pro356GlnfsTer?
NM_001285401.2:c.1061del	NP_001272330.1:p.Pro354GlnfsTer?
NM_001285402.1:c.1016del	NP_001272331.1:p.Pro339GlnfsTer?
NM_014336.4:c.1133del	NP_055151.3:p.Pro378GlnfsTer?
NM_001033054.3:c.944del	NP_001028226.1:p.Pro315GlnfsTer?
NM_001033055.3:c.953del	NP_001028227.1:p.Pro318GlnfsTer?
NM_001285399.3:c.1097del	NP_001272328.1:p.Pro366GlnfsTer?
NM_001285400.3:c.1067del	NP_001272329.1:p.Pro356GlnfsTer?
NM_001285401.3:c.1061del	NP_001272330.1:p.Pro354GlnfsTer?
NM_001285402.2:c.1016del	NP_001272331.1:p.Pro339GlnfsTer?
NM_001285403.3:c.*1104del	NP_001272332.1:n.*1104del
NM_014336.5:c.1133del MANE Select	NP_055151.3:p.Pro378GlnfsTer?
NM_001285403.4:c.*1104del	NP_001272332.1:n.*1104del