Canonical Allele Identifier: CA981100213

Gene: AIPL1

Linked Data

• dbSNP Id: rs1911785302
• gnomAD v3: 17-6425272-C-CTT
• gnomAD v4: 17-6425272-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425275_6425276dup , CM000679.2:g.6425275_6425276dup	GRCh38
NC_000017.10:g.6328595_6328596dup , CM000679.1:g.6328595_6328596dup	GRCh37
NC_000017.9:g.6269319_6269320dup	NCBI36
NG_008474.1:g.14926_14927dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*186_*187dup MANE Select	ENSP00000370521.3:n.*186_*187dup
ENST00000250087.9:c.*186_*187dup	ENSP00000250087.5:n.*186_*187dup
ENST00000381128.2:c.*1213_*1214dup	ENSP00000370520.2:n.*1213_*1214dup
ENST00000381129.7:c.*186_*187dup	ENSP00000370521.3:n.*186_*187dup
ENST00000570584.5:c.251+8645_251+8646dup
ENST00000574506.5:c.*186_*187dup	ENSP00000458456.1:n.*186_*187dup
NM_001033054.2:c.*186_*187dup	NP_001028226.1:n.*186_*187dup
NM_001033055.2:c.*186_*187dup	NP_001028227.1:n.*186_*187dup
NM_001285399.2:c.*186_*187dup	NP_001272328.1:n.*186_*187dup
NM_001285400.2:c.*186_*187dup	NP_001272329.1:n.*186_*187dup
NM_001285401.2:c.*186_*187dup	NP_001272330.1:n.*186_*187dup
NM_001285402.1:c.*186_*187dup	NP_001272331.1:n.*186_*187dup
NM_014336.4:c.*186_*187dup	NP_055151.3:n.*186_*187dup
NM_001033054.3:c.*186_*187dup	NP_001028226.1:n.*186_*187dup
NM_001033055.3:c.*186_*187dup	NP_001028227.1:n.*186_*187dup
NM_001285399.3:c.*186_*187dup	NP_001272328.1:n.*186_*187dup
NM_001285400.3:c.*186_*187dup	NP_001272329.1:n.*186_*187dup
NM_001285401.3:c.*186_*187dup	NP_001272330.1:n.*186_*187dup
NM_001285402.2:c.*186_*187dup	NP_001272331.1:n.*186_*187dup
NM_014336.5:c.*186_*187dup MANE Select	NP_055151.3:n.*186_*187dup
NM_001285403.4:c.*1312_*1313dup	NP_001272332.1:n.*1312_*1313dup