Canonical Allele Identifier: CA2635688837

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425527-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425528del , CM000679.2:g.6425528del	GRCh38
NC_000017.10:g.6328848del , CM000679.1:g.6328848del	GRCh37
NC_000017.9:g.6269572del	NCBI36
NG_008474.1:g.14672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1087del MANE Select	ENSP00000370521.3:p.Ser363ProfsTer?
ENST00000250087.9:c.898del	ENSP00000250087.5:p.Ser300ProfsTer?
ENST00000381128.2:c.*959del	ENSP00000370520.2:n.*959del
ENST00000381129.7:c.1087del	ENSP00000370521.3:p.Ser363ProfsTer?
ENST00000570466.5:c.1021del	ENSP00000461287.1:p.Ser341ProfsTer?
ENST00000570584.5:c.251+8391del
ENST00000574506.5:c.1051del	ENSP00000458456.1:p.Ser351ProfsTer?
ENST00000575265.5:c.*1058del	ENSP00000459673.1:n.*1058del
ENST00000576307.5:c.907del	ENSP00000459522.1:p.Ser303ProfsTer?
ENST00000576776.5:c.1015del	ENSP00000460827.1:p.Ser339ProfsTer?
ENST00000621374.4:c.*105del	ENSP00000481337.1:n.*105del
NM_001033054.2:c.898del	NP_001028226.1:p.Ser300ProfsTer?
NM_001033055.2:c.907del	NP_001028227.1:p.Ser303ProfsTer?
NM_001285399.2:c.1051del	NP_001272328.1:p.Ser351ProfsTer?
NM_001285400.2:c.1021del	NP_001272329.1:p.Ser341ProfsTer?
NM_001285401.2:c.1015del	NP_001272330.1:p.Ser339ProfsTer?
NM_001285402.1:c.970del	NP_001272331.1:p.Ser324ProfsTer?
NM_014336.4:c.1087del	NP_055151.3:p.Ser363ProfsTer?
NM_001033054.3:c.898del	NP_001028226.1:p.Ser300ProfsTer?
NM_001033055.3:c.907del	NP_001028227.1:p.Ser303ProfsTer?
NM_001285399.3:c.1051del	NP_001272328.1:p.Ser351ProfsTer?
NM_001285400.3:c.1021del	NP_001272329.1:p.Ser341ProfsTer?
NM_001285401.3:c.1015del	NP_001272330.1:p.Ser339ProfsTer?
NM_001285402.2:c.970del	NP_001272331.1:p.Ser324ProfsTer?
NM_001285403.3:c.*1058del	NP_001272332.1:n.*1058del
NM_014336.5:c.1087del MANE Select	NP_055151.3:p.Ser363ProfsTer?
NM_001285403.4:c.*1058del	NP_001272332.1:n.*1058del