Canonical Allele Identifier: CA624859140

Gene: AIPL1

Linked Data

• dbSNP Id: rs1567634663
• gnomAD v2: 17-6328905-CG-C
• gnomAD v4: 17-6425585-CG-C
• MyVariant Identifiers: chr17:g.6328906del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425588del , CM000679.2:g.6425588del	GRCh38
NC_000017.10:g.6328908del , CM000679.1:g.6328908del	GRCh37
NC_000017.9:g.6269632del	NCBI36
NG_008474.1:g.14614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1029del MANE Select	ENSP00000370521.3:p.Ala344HisfsTer?
ENST00000250087.9:c.840del	ENSP00000250087.5:p.Ala281HisfsTer?
ENST00000381128.2:c.*901del	ENSP00000370520.2:n.*901del
ENST00000381129.7:c.1029del	ENSP00000370521.3:p.Ala344HisfsTer?
ENST00000570466.5:c.963del	ENSP00000461287.1:p.Ala322HisfsTer?
ENST00000570584.5:c.251+8333del
ENST00000574506.5:c.993del	ENSP00000458456.1:p.Ala332HisfsTer?
ENST00000575265.5:c.*1000del	ENSP00000459673.1:n.*1000del
ENST00000576307.5:c.849del	ENSP00000459522.1:p.Ala284HisfsTer?
ENST00000576776.5:c.957del	ENSP00000460827.1:p.Ala320HisfsTer?
ENST00000621374.4:c.*47del	ENSP00000481337.1:n.*47del
NM_001033054.2:c.840del	NP_001028226.1:p.Ala281HisfsTer?
NM_001033055.2:c.849del	NP_001028227.1:p.Ala284HisfsTer?
NM_001285399.2:c.993del	NP_001272328.1:p.Ala332HisfsTer?
NM_001285400.2:c.963del	NP_001272329.1:p.Ala322HisfsTer?
NM_001285401.2:c.957del	NP_001272330.1:p.Ala320HisfsTer?
NM_001285402.1:c.912del	NP_001272331.1:p.Ala305HisfsTer?
NM_014336.4:c.1029del	NP_055151.3:p.Ala344HisfsTer?
NM_001033054.3:c.840del	NP_001028226.1:p.Ala281HisfsTer?
NM_001033055.3:c.849del	NP_001028227.1:p.Ala284HisfsTer?
NM_001285399.3:c.993del	NP_001272328.1:p.Ala332HisfsTer?
NM_001285400.3:c.963del	NP_001272329.1:p.Ala322HisfsTer?
NM_001285401.3:c.957del	NP_001272330.1:p.Ala320HisfsTer?
NM_001285402.2:c.912del	NP_001272331.1:p.Ala305HisfsTer?
NM_001285403.3:c.*1000del	NP_001272332.1:n.*1000del
NM_014336.5:c.1029del MANE Select	NP_055151.3:p.Ala344HisfsTer?
NM_001285403.4:c.*1000del	NP_001272332.1:n.*1000del