Canonical Allele Identifier: CA2576142267

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425579_6425590del , CM000679.2:g.6425579_6425590del	GRCh38
NC_000017.10:g.6328899_6328910del , CM000679.1:g.6328899_6328910del	GRCh37
NC_000017.9:g.6269623_6269634del	NCBI36
NG_008474.1:g.14612_14623del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1027_1038del MANE Select	ENSP00000370521.3:p.Pro343_Ser346del
ENST00000250087.9:c.838_849del	ENSP00000250087.5:p.Pro280_Ser283del
ENST00000381128.2:c.*899_*910del	ENSP00000370520.2:n.*899_*910del
ENST00000381129.7:c.1027_1038del	ENSP00000370521.3:p.Pro343_Ser346del
ENST00000570466.5:c.961_972del	ENSP00000461287.1:p.Pro321_Ser324del
ENST00000570584.5:c.251+8331_251+8342del
ENST00000574506.5:c.991_1002del	ENSP00000458456.1:p.Pro331_Ser334del
ENST00000575265.5:c.*998_*1009del	ENSP00000459673.1:n.*998_*1009del
ENST00000576307.5:c.847_858del	ENSP00000459522.1:p.Pro283_Ser286del
ENST00000576776.5:c.955_966del	ENSP00000460827.1:p.Pro319_Ser322del
ENST00000621374.4:c.*45_*56del	ENSP00000481337.1:n.*45_*56del
NM_001033054.2:c.838_849del	NP_001028226.1:p.Pro280_Ser283del
NM_001033055.2:c.847_858del	NP_001028227.1:p.Pro283_Ser286del
NM_001285399.2:c.991_1002del	NP_001272328.1:p.Pro331_Ser334del
NM_001285400.2:c.961_972del	NP_001272329.1:p.Pro321_Ser324del
NM_001285401.2:c.955_966del	NP_001272330.1:p.Pro319_Ser322del
NM_001285402.1:c.910_921del	NP_001272331.1:p.Pro304_Ser307del
NM_014336.4:c.1027_1038del	NP_055151.3:p.Pro343_Ser346del
NM_001033054.3:c.838_849del	NP_001028226.1:p.Pro280_Ser283del
NM_001033055.3:c.847_858del	NP_001028227.1:p.Pro283_Ser286del
NM_001285399.3:c.991_1002del	NP_001272328.1:p.Pro331_Ser334del
NM_001285400.3:c.961_972del	NP_001272329.1:p.Pro321_Ser324del
NM_001285401.3:c.955_966del	NP_001272330.1:p.Pro319_Ser322del
NM_001285402.2:c.910_921del	NP_001272331.1:p.Pro304_Ser307del
NM_001285403.3:c.*998_*1009del	NP_001272332.1:n.*998_*1009del
NM_014336.5:c.1027_1038del MANE Select	NP_055151.3:p.Pro343_Ser346del
NM_001285403.4:c.*998_*1009del	NP_001272332.1:n.*998_*1009del