Canonical Allele Identifier: CA2635688838

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425585-C-CGGGTGGCTCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425597_6425608dup , CM000679.2:g.6425597_6425608dup	GRCh38
NC_000017.10:g.6328917_6328928dup , CM000679.1:g.6328917_6328928dup	GRCh37
NC_000017.9:g.6269641_6269652dup	NCBI36
NG_008474.1:g.14603_14614dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1018_1029dup MANE Select	ENSP00000370521.3:p.Pro343_Ala344insThrGluProPro
ENST00000250087.9:c.829_840dup	ENSP00000250087.5:p.Pro280_Ala281insThrGluProPro
ENST00000381128.2:c.*890_*901dup	ENSP00000370520.2:n.*890_*901dup
ENST00000381129.7:c.1018_1029dup	ENSP00000370521.3:p.Pro343_Ala344insThrGluProPro
ENST00000570466.5:c.952_963dup	ENSP00000461287.1:p.Pro321_Ala322insThrGluProPro
ENST00000570584.5:c.251+8322_251+8333dup
ENST00000574506.5:c.982_993dup	ENSP00000458456.1:p.Pro331_Ala332insThrGluProPro
ENST00000575265.5:c.*989_*1000dup	ENSP00000459673.1:n.*989_*1000dup
ENST00000576307.5:c.838_849dup	ENSP00000459522.1:p.Pro283_Ala284insThrGluProPro
ENST00000576776.5:c.946_957dup	ENSP00000460827.1:p.Pro319_Ala320insThrGluProPro
ENST00000621374.4:c.*36_*47dup	ENSP00000481337.1:n.*36_*47dup
NM_001033054.2:c.829_840dup	NP_001028226.1:p.Pro280_Ala281insThrGluProPro
NM_001033055.2:c.838_849dup	NP_001028227.1:p.Pro283_Ala284insThrGluProPro
NM_001285399.2:c.982_993dup	NP_001272328.1:p.Pro331_Ala332insThrGluProPro
NM_001285400.2:c.952_963dup	NP_001272329.1:p.Pro321_Ala322insThrGluProPro
NM_001285401.2:c.946_957dup	NP_001272330.1:p.Pro319_Ala320insThrGluProPro
NM_001285402.1:c.901_912dup	NP_001272331.1:p.Pro304_Ala305insThrGluProPro
NM_014336.4:c.1018_1029dup	NP_055151.3:p.Pro343_Ala344insThrGluProPro
NM_001033054.3:c.829_840dup	NP_001028226.1:p.Pro280_Ala281insThrGluProPro
NM_001033055.3:c.838_849dup	NP_001028227.1:p.Pro283_Ala284insThrGluProPro
NM_001285399.3:c.982_993dup	NP_001272328.1:p.Pro331_Ala332insThrGluProPro
NM_001285400.3:c.952_963dup	NP_001272329.1:p.Pro321_Ala322insThrGluProPro
NM_001285401.3:c.946_957dup	NP_001272330.1:p.Pro319_Ala320insThrGluProPro
NM_001285402.2:c.901_912dup	NP_001272331.1:p.Pro304_Ala305insThrGluProPro
NM_001285403.3:c.*989_*1000dup	NP_001272332.1:n.*989_*1000dup
NM_014336.5:c.1018_1029dup MANE Select	NP_055151.3:p.Pro343_Ala344insThrGluProPro
NM_001285403.4:c.*989_*1000dup	NP_001272332.1:n.*989_*1000dup