Canonical Allele Identifier: CA2808334464

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425614_6425623del , CM000679.2:g.6425614_6425623del	GRCh38
NC_000017.10:g.6328934_6328943del , CM000679.1:g.6328934_6328943del	GRCh37
NC_000017.9:g.6269658_6269667del	NCBI36
NG_008474.1:g.14577_14586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.992_1001del MANE Select	ENSP00000370521.3:p.Ala331ValfsTer?
ENST00000250087.9:c.803_812del	ENSP00000250087.5:p.Ala268ValfsTer?
ENST00000381128.2:c.*864_*873del	ENSP00000370520.2:n.*864_*873del
ENST00000381129.7:c.992_1001del	ENSP00000370521.3:p.Ala331ValfsTer?
ENST00000570466.5:c.926_935del	ENSP00000461287.1:p.Ala309ValfsTer?
ENST00000570584.5:c.251+8296_251+8305del
ENST00000574506.5:c.956_965del	ENSP00000458456.1:p.Ala319ValfsTer?
ENST00000575265.5:c.*963_*972del	ENSP00000459673.1:n.*963_*972del
ENST00000576307.5:c.812_821del	ENSP00000459522.1:p.Ala271ValfsTer?
ENST00000576776.5:c.920_929del	ENSP00000460827.1:p.Ala307ValfsTer?
ENST00000621374.4:c.*10_*19del	ENSP00000481337.1:n.*10_*19del
NM_001033054.2:c.803_812del	NP_001028226.1:p.Ala268ValfsTer?
NM_001033055.2:c.812_821del	NP_001028227.1:p.Ala271ValfsTer?
NM_001285399.2:c.956_965del	NP_001272328.1:p.Ala319ValfsTer?
NM_001285400.2:c.926_935del	NP_001272329.1:p.Ala309ValfsTer?
NM_001285401.2:c.920_929del	NP_001272330.1:p.Ala307ValfsTer?
NM_001285402.1:c.875_884del	NP_001272331.1:p.Ala292ValfsTer?
NM_014336.4:c.992_1001del	NP_055151.3:p.Ala331ValfsTer?
NM_001033054.3:c.803_812del	NP_001028226.1:p.Ala268ValfsTer?
NM_001033055.3:c.812_821del	NP_001028227.1:p.Ala271ValfsTer?
NM_001285399.3:c.956_965del	NP_001272328.1:p.Ala319ValfsTer?
NM_001285400.3:c.926_935del	NP_001272329.1:p.Ala309ValfsTer?
NM_001285401.3:c.920_929del	NP_001272330.1:p.Ala307ValfsTer?
NM_001285402.2:c.875_884del	NP_001272331.1:p.Ala292ValfsTer?
NM_001285403.3:c.*963_*972del	NP_001272332.1:n.*963_*972del
NM_014336.5:c.992_1001del MANE Select	NP_055151.3:p.Ala331ValfsTer?
NM_001285403.4:c.*963_*972del	NP_001272332.1:n.*963_*972del