Canonical Allele Identifier: CA2635688830

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425477-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425480del , CM000679.2:g.6425480del	GRCh38
NC_000017.10:g.6328800del , CM000679.1:g.6328800del	GRCh37
NC_000017.9:g.6269524del	NCBI36
NG_008474.1:g.14722del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1137del MANE Select	ENSP00000370521.3:p.His380ThrfsTer?
ENST00000250087.9:c.948del	ENSP00000250087.5:p.His317ThrfsTer?
ENST00000381128.2:c.*1009del	ENSP00000370520.2:n.*1009del
ENST00000381129.7:c.1137del	ENSP00000370521.3:p.His380ThrfsTer?
ENST00000570466.5:c.1071del	ENSP00000461287.1:p.His358ThrfsTer?
ENST00000570584.5:c.251+8441del
ENST00000574506.5:c.1101del	ENSP00000458456.1:p.His368ThrfsTer?
ENST00000575265.5:c.*1108del	ENSP00000459673.1:n.*1108del
ENST00000576307.5:c.957del	ENSP00000459522.1:p.His320ThrfsTer?
ENST00000576776.5:c.1065del	ENSP00000460827.1:p.His356ThrfsTer?
ENST00000621374.4:c.*155del	ENSP00000481337.1:n.*155del
NM_001033054.2:c.948del	NP_001028226.1:p.His317ThrfsTer?
NM_001033055.2:c.957del	NP_001028227.1:p.His320ThrfsTer?
NM_001285399.2:c.1101del	NP_001272328.1:p.His368ThrfsTer?
NM_001285400.2:c.1071del	NP_001272329.1:p.His358ThrfsTer?
NM_001285401.2:c.1065del	NP_001272330.1:p.His356ThrfsTer?
NM_001285402.1:c.1020del	NP_001272331.1:p.His341ThrfsTer?
NM_014336.4:c.1137del	NP_055151.3:p.His380ThrfsTer?
NM_001033054.3:c.948del	NP_001028226.1:p.His317ThrfsTer?
NM_001033055.3:c.957del	NP_001028227.1:p.His320ThrfsTer?
NM_001285399.3:c.1101del	NP_001272328.1:p.His368ThrfsTer?
NM_001285400.3:c.1071del	NP_001272329.1:p.His358ThrfsTer?
NM_001285401.3:c.1065del	NP_001272330.1:p.His356ThrfsTer?
NM_001285402.2:c.1020del	NP_001272331.1:p.His341ThrfsTer?
NM_001285403.3:c.*1108del	NP_001272332.1:n.*1108del
NM_014336.5:c.1137del MANE Select	NP_055151.3:p.His380ThrfsTer?
NM_001285403.4:c.*1108del	NP_001272332.1:n.*1108del