Canonical Allele Identifier: CA981100591

Gene: AIPL1

Linked Data

• dbSNP Id: rs1911827592
• gnomAD v4: 17-6425514-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425519del , CM000679.2:g.6425519del	GRCh38
NC_000017.10:g.6328839del , CM000679.1:g.6328839del	GRCh37
NC_000017.9:g.6269563del	NCBI36
NG_008474.1:g.14685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1100del MANE Select	ENSP00000370521.3:p.Pro367LeufsTer?
ENST00000250087.9:c.911del	ENSP00000250087.5:p.Pro304LeufsTer?
ENST00000381128.2:c.*972del	ENSP00000370520.2:n.*972del
ENST00000381129.7:c.1100del	ENSP00000370521.3:p.Pro367LeufsTer?
ENST00000570466.5:c.1034del	ENSP00000461287.1:p.Pro345LeufsTer?
ENST00000570584.5:c.251+8404del
ENST00000574506.5:c.1064del	ENSP00000458456.1:p.Pro355LeufsTer?
ENST00000575265.5:c.*1071del	ENSP00000459673.1:n.*1071del
ENST00000576307.5:c.920del	ENSP00000459522.1:p.Pro307LeufsTer?
ENST00000576776.5:c.1028del	ENSP00000460827.1:p.Pro343LeufsTer?
ENST00000621374.4:c.*118del	ENSP00000481337.1:n.*118del
NM_001033054.2:c.911del	NP_001028226.1:p.Pro304LeufsTer?
NM_001033055.2:c.920del	NP_001028227.1:p.Pro307LeufsTer?
NM_001285399.2:c.1064del	NP_001272328.1:p.Pro355LeufsTer?
NM_001285400.2:c.1034del	NP_001272329.1:p.Pro345LeufsTer?
NM_001285401.2:c.1028del	NP_001272330.1:p.Pro343LeufsTer?
NM_001285402.1:c.983del	NP_001272331.1:p.Pro328LeufsTer?
NM_014336.4:c.1100del	NP_055151.3:p.Pro367LeufsTer?
NM_001033054.3:c.911del	NP_001028226.1:p.Pro304LeufsTer?
NM_001033055.3:c.920del	NP_001028227.1:p.Pro307LeufsTer?
NM_001285399.3:c.1064del	NP_001272328.1:p.Pro355LeufsTer?
NM_001285400.3:c.1034del	NP_001272329.1:p.Pro345LeufsTer?
NM_001285401.3:c.1028del	NP_001272330.1:p.Pro343LeufsTer?
NM_001285402.2:c.983del	NP_001272331.1:p.Pro328LeufsTer?
NM_001285403.3:c.*1071del	NP_001272332.1:n.*1071del
NM_014336.5:c.1100del MANE Select	NP_055151.3:p.Pro367LeufsTer?
NM_001285403.4:c.*1071del	NP_001272332.1:n.*1071del