Canonical Allele Identifier: CA645590905

Gene: AIPL1

Linked Data

• dbSNP Id: rs1567634948
• gnomAD v4: 17-6425657-GCTC-G
• COSMIC: COSM5482367

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425666_6425668del , CM000679.2:g.6425666_6425668del	GRCh38
NC_000017.10:g.6328986_6328988del , CM000679.1:g.6328986_6328988del	GRCh37
NC_000017.9:g.6269710_6269712del	NCBI36
NG_008474.1:g.14540_14542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.955_957del MANE Select	ENSP00000370521.3:p.Glu319del
ENST00000250087.9:c.766_768del	ENSP00000250087.5:p.Glu256del
ENST00000381128.2:c.*827_*829del	ENSP00000370520.2:n.*827_*829del
ENST00000381129.7:c.955_957del	ENSP00000370521.3:p.Glu319del
ENST00000570466.5:c.889_891del	ENSP00000461287.1:p.Glu297del
ENST00000570584.5:c.251+8259_251+8261del
ENST00000574506.5:c.919_921del	ENSP00000458456.1:p.Glu307del
ENST00000575265.5:c.*926_*928del	ENSP00000459673.1:n.*926_*928del
ENST00000576307.5:c.775_777del	ENSP00000459522.1:p.Glu259del
ENST00000576776.5:c.883_885del	ENSP00000460827.1:p.Glu295del
ENST00000621374.4:c.954_956del	ENSP00000481337.1:p.Arg318del
NM_001033054.2:c.766_768del	NP_001028226.1:p.Glu256del
NM_001033055.2:c.775_777del	NP_001028227.1:p.Glu259del
NM_001285399.2:c.919_921del	NP_001272328.1:p.Glu307del
NM_001285400.2:c.889_891del	NP_001272329.1:p.Glu297del
NM_001285401.2:c.883_885del	NP_001272330.1:p.Glu295del
NM_001285402.1:c.838_840del	NP_001272331.1:p.Glu280del
NM_014336.4:c.955_957del	NP_055151.3:p.Glu319del
NM_001033054.3:c.766_768del	NP_001028226.1:p.Glu256del
NM_001033055.3:c.775_777del	NP_001028227.1:p.Glu259del
NM_001285399.3:c.919_921del	NP_001272328.1:p.Glu307del
NM_001285400.3:c.889_891del	NP_001272329.1:p.Glu297del
NM_001285401.3:c.883_885del	NP_001272330.1:p.Glu295del
NM_001285402.2:c.838_840del	NP_001272331.1:p.Glu280del
NM_001285403.3:c.*926_*928del	NP_001272332.1:n.*926_*928del
NM_014336.5:c.955_957del MANE Select	NP_055151.3:p.Glu319del
NM_001285403.4:c.*926_*928del	NP_001272332.1:n.*926_*928del