Canonical Allele Identifier: CA981100671

Gene: AIPL1

Linked Data

• dbSNP Id: rs1911853446
• gnomAD v3: 17-6425642-TC-T
• gnomAD v4: 17-6425642-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425644del , CM000679.2:g.6425644del	GRCh38
NC_000017.10:g.6328964del , CM000679.1:g.6328964del	GRCh37
NC_000017.9:g.6269688del	NCBI36
NG_008474.1:g.14557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.972del MANE Select	ENSP00000370521.3:p.Asn325ThrfsTer3
ENST00000250087.9:c.783del	ENSP00000250087.5:p.Asn262ThrfsTer3
ENST00000381128.2:c.*844del	ENSP00000370520.2:n.*844del
ENST00000381129.7:c.972del	ENSP00000370521.3:p.Asn325ThrfsTer3
ENST00000570466.5:c.906del	ENSP00000461287.1:p.Asn303ThrfsTer3
ENST00000570584.5:c.251+8276del
ENST00000574506.5:c.936del	ENSP00000458456.1:p.Asn313ThrfsTer3
ENST00000575265.5:c.*943del	ENSP00000459673.1:n.*943del
ENST00000576307.5:c.792del	ENSP00000459522.1:p.Asn265ThrfsTer3
ENST00000576776.5:c.900del	ENSP00000460827.1:p.Asn301ThrfsTer3
ENST00000621374.4:c.971del	ENSP00000481337.1:p.Gly324GlufsTer?
NM_001033054.2:c.783del	NP_001028226.1:p.Asn262ThrfsTer3
NM_001033055.2:c.792del	NP_001028227.1:p.Asn265ThrfsTer3
NM_001285399.2:c.936del	NP_001272328.1:p.Asn313ThrfsTer3
NM_001285400.2:c.906del	NP_001272329.1:p.Asn303ThrfsTer3
NM_001285401.2:c.900del	NP_001272330.1:p.Asn301ThrfsTer3
NM_001285402.1:c.855del	NP_001272331.1:p.Asn286ThrfsTer3
NM_014336.4:c.972del	NP_055151.3:p.Asn325ThrfsTer3
NM_001033054.3:c.783del	NP_001028226.1:p.Asn262ThrfsTer3
NM_001033055.3:c.792del	NP_001028227.1:p.Asn265ThrfsTer3
NM_001285399.3:c.936del	NP_001272328.1:p.Asn313ThrfsTer3
NM_001285400.3:c.906del	NP_001272329.1:p.Asn303ThrfsTer3
NM_001285401.3:c.900del	NP_001272330.1:p.Asn301ThrfsTer3
NM_001285402.2:c.855del	NP_001272331.1:p.Asn286ThrfsTer3
NM_001285403.3:c.*943del	NP_001272332.1:n.*943del
NM_014336.5:c.972del MANE Select	NP_055151.3:p.Asn325ThrfsTer3
NM_001285403.4:c.*943del	NP_001272332.1:n.*943del