Canonical Allele Identifier: CA981100532

Gene: AIPL1

Linked Data

• dbSNP Id: rs1911811268
• gnomAD v3: 17-6425417-G-GA
• gnomAD v4: 17-6425417-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425417_6425418insA , CM000679.2:g.6425417_6425418insA	GRCh38
NC_000017.10:g.6328737_6328738insA , CM000679.1:g.6328737_6328738insA	GRCh37
NC_000017.9:g.6269461_6269462insA	NCBI36
NG_008474.1:g.14782_14783insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*42_*43insT MANE Select	ENSP00000370521.3:n.*42_*43insT
ENST00000250087.9:c.*42_*43insT	ENSP00000250087.5:n.*42_*43insT
ENST00000381128.2:c.*1069_*1070insT	ENSP00000370520.2:n.*1069_*1070insT
ENST00000381129.7:c.*42_*43insT	ENSP00000370521.3:n.*42_*43insT
ENST00000570466.5:c.*42_*43insT	ENSP00000461287.1:n.*42_*43insT
ENST00000570584.5:c.251+8501_251+8502insT
ENST00000574506.5:c.*42_*43insT	ENSP00000458456.1:n.*42_*43insT
ENST00000575265.5:c.*1168_*1169insT	ENSP00000459673.1:n.*1168_*1169insT
ENST00000576307.5:c.*42_*43insT	ENSP00000459522.1:n.*42_*43insT
ENST00000576776.5:c.*42_*43insT	ENSP00000460827.1:n.*42_*43insT
ENST00000621374.4:c.*215_*216insT	ENSP00000481337.1:n.*215_*216insT
NM_001033054.2:c.*42_*43insT	NP_001028226.1:n.*42_*43insT
NM_001033055.2:c.*42_*43insT	NP_001028227.1:n.*42_*43insT
NM_001285399.2:c.*42_*43insT	NP_001272328.1:n.*42_*43insT
NM_001285400.2:c.*42_*43insT	NP_001272329.1:n.*42_*43insT
NM_001285401.2:c.*42_*43insT	NP_001272330.1:n.*42_*43insT
NM_001285402.1:c.*42_*43insT	NP_001272331.1:n.*42_*43insT
NM_014336.4:c.*42_*43insT	NP_055151.3:n.*42_*43insT
NM_001033054.3:c.*42_*43insT	NP_001028226.1:n.*42_*43insT
NM_001033055.3:c.*42_*43insT	NP_001028227.1:n.*42_*43insT
NM_001285399.3:c.*42_*43insT	NP_001272328.1:n.*42_*43insT
NM_001285400.3:c.*42_*43insT	NP_001272329.1:n.*42_*43insT
NM_001285401.3:c.*42_*43insT	NP_001272330.1:n.*42_*43insT
NM_001285402.2:c.*42_*43insT	NP_001272331.1:n.*42_*43insT
NM_001285403.3:c.*1168_*1169insT	NP_001272332.1:n.*1168_*1169insT
NM_014336.5:c.*42_*43insT MANE Select	NP_055151.3:n.*42_*43insT
NM_001285403.4:c.*1168_*1169insT	NP_001272332.1:n.*1168_*1169insT