Canonical Allele Identifier: CA2635688840

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425685-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425687dup , CM000679.2:g.6425687dup	GRCh38
NC_000017.10:g.6329007dup , CM000679.1:g.6329007dup	GRCh37
NC_000017.9:g.6269731dup	NCBI36
NG_008474.1:g.14514dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.929dup MANE Select	ENSP00000370521.3:p.Asn310LysfsTer?
ENST00000250087.9:c.740dup	ENSP00000250087.5:p.Asn247LysfsTer?
ENST00000381128.2:c.*801dup	ENSP00000370520.2:n.*801dup
ENST00000381129.7:c.929dup	ENSP00000370521.3:p.Asn310LysfsTer?
ENST00000570466.5:c.863dup	ENSP00000461287.1:p.Asn288LysfsTer?
ENST00000570584.5:c.251+8233dup
ENST00000574506.5:c.893dup	ENSP00000458456.1:p.Asn298LysfsTer?
ENST00000575265.5:c.*900dup	ENSP00000459673.1:n.*900dup
ENST00000576307.5:c.749dup	ENSP00000459522.1:p.Asn250LysfsTer?
ENST00000576776.5:c.857dup	ENSP00000460827.1:p.Asn286LysfsTer?
ENST00000621374.4:c.929dup	ENSP00000481337.1:p.Asn310LysfsTer?
NM_001033054.2:c.740dup	NP_001028226.1:p.Asn247LysfsTer?
NM_001033055.2:c.749dup	NP_001028227.1:p.Asn250LysfsTer?
NM_001285399.2:c.893dup	NP_001272328.1:p.Asn298LysfsTer?
NM_001285400.2:c.863dup	NP_001272329.1:p.Asn288LysfsTer?
NM_001285401.2:c.857dup	NP_001272330.1:p.Asn286LysfsTer?
NM_001285402.1:c.812dup	NP_001272331.1:p.Asn271LysfsTer?
NM_014336.4:c.929dup	NP_055151.3:p.Asn310LysfsTer?
NM_001033054.3:c.740dup	NP_001028226.1:p.Asn247LysfsTer?
NM_001033055.3:c.749dup	NP_001028227.1:p.Asn250LysfsTer?
NM_001285399.3:c.893dup	NP_001272328.1:p.Asn298LysfsTer?
NM_001285400.3:c.863dup	NP_001272329.1:p.Asn288LysfsTer?
NM_001285401.3:c.857dup	NP_001272330.1:p.Asn286LysfsTer?
NM_001285402.2:c.812dup	NP_001272331.1:p.Asn271LysfsTer?
NM_001285403.3:c.*900dup	NP_001272332.1:n.*900dup
NM_014336.5:c.929dup MANE Select	NP_055151.3:p.Asn310LysfsTer?
NM_001285403.4:c.*900dup	NP_001272332.1:n.*900dup