Canonical Allele Identifier: CA2576142266

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425502_6425513dup , CM000679.2:g.6425502_6425513dup	GRCh38
NC_000017.10:g.6328822_6328833dup , CM000679.1:g.6328822_6328833dup	GRCh37
NC_000017.9:g.6269546_6269557dup	NCBI36
NG_008474.1:g.14687_14698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1102_1113dup MANE Select	ENSP00000370521.3:p.Ala371_Thr372insAlaGluProAla
ENST00000250087.9:c.913_924dup	ENSP00000250087.5:p.Ala308_Thr309insAlaGluProAla
ENST00000381128.2:c.*974_*985dup	ENSP00000370520.2:n.*974_*985dup
ENST00000381129.7:c.1102_1113dup	ENSP00000370521.3:p.Ala371_Thr372insAlaGluProAla
ENST00000570466.5:c.1036_1047dup	ENSP00000461287.1:p.Ala349_Thr350insAlaGluProAla
ENST00000570584.5:c.251+8406_251+8417dup
ENST00000574506.5:c.1066_1077dup	ENSP00000458456.1:p.Ala359_Thr360insAlaGluProAla
ENST00000575265.5:c.*1073_*1084dup	ENSP00000459673.1:n.*1073_*1084dup
ENST00000576307.5:c.922_933dup	ENSP00000459522.1:p.Ala311_Thr312insAlaGluProAla
ENST00000576776.5:c.1030_1041dup	ENSP00000460827.1:p.Ala347_Thr348insAlaGluProAla
ENST00000621374.4:c.*120_*131dup	ENSP00000481337.1:n.*120_*131dup
NM_001033054.2:c.913_924dup	NP_001028226.1:p.Ala308_Thr309insAlaGluProAla
NM_001033055.2:c.922_933dup	NP_001028227.1:p.Ala311_Thr312insAlaGluProAla
NM_001285399.2:c.1066_1077dup	NP_001272328.1:p.Ala359_Thr360insAlaGluProAla
NM_001285400.2:c.1036_1047dup	NP_001272329.1:p.Ala349_Thr350insAlaGluProAla
NM_001285401.2:c.1030_1041dup	NP_001272330.1:p.Ala347_Thr348insAlaGluProAla
NM_001285402.1:c.985_996dup	NP_001272331.1:p.Ala332_Thr333insAlaGluProAla
NM_014336.4:c.1102_1113dup	NP_055151.3:p.Ala371_Thr372insAlaGluProAla
NM_001033054.3:c.913_924dup	NP_001028226.1:p.Ala308_Thr309insAlaGluProAla
NM_001033055.3:c.922_933dup	NP_001028227.1:p.Ala311_Thr312insAlaGluProAla
NM_001285399.3:c.1066_1077dup	NP_001272328.1:p.Ala359_Thr360insAlaGluProAla
NM_001285400.3:c.1036_1047dup	NP_001272329.1:p.Ala349_Thr350insAlaGluProAla
NM_001285401.3:c.1030_1041dup	NP_001272330.1:p.Ala347_Thr348insAlaGluProAla
NM_001285402.2:c.985_996dup	NP_001272331.1:p.Ala332_Thr333insAlaGluProAla
NM_001285403.3:c.*1073_*1084dup	NP_001272332.1:n.*1073_*1084dup
NM_014336.5:c.1102_1113dup MANE Select	NP_055151.3:p.Ala371_Thr372insAlaGluProAla
NM_001285403.4:c.*1073_*1084dup	NP_001272332.1:n.*1073_*1084dup