Canonical Allele Identifier: CA981100417

Gene: AIPL1

Linked Data

• gnomAD v3: 17-6425332-G-GTTTTTT
• gnomAD v4: 17-6425332-G-GTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425333_6425334insTTTTTT , CM000679.2:g.6425333_6425334insTTTTTT	GRCh38
NC_000017.10:g.6328653_6328654insTTTTTT , CM000679.1:g.6328653_6328654insTTTTTT	GRCh37
NC_000017.9:g.6269377_6269378insTTTTTT	NCBI36
NG_008474.1:g.14867_14868insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*127_*128insAAAAAA MANE Select	ENSP00000370521.3:n.*127_*128insAAAAAA
ENST00000250087.9:c.*127_*128insAAAAAA	ENSP00000250087.5:n.*127_*128insAAAAAA
ENST00000381128.2:c.*1154_*1155insAAAAAA	ENSP00000370520.2:n.*1154_*1155insAAAAAA
ENST00000381129.7:c.*127_*128insAAAAAA	ENSP00000370521.3:n.*127_*128insAAAAAA
ENST00000570584.5:c.251+8586_251+8587insAAAAAA
ENST00000574506.5:c.*127_*128insAAAAAA	ENSP00000458456.1:n.*127_*128insAAAAAA
ENST00000575265.5:c.*1253_*1254insAAAAAA	ENSP00000459673.1:n.*1253_*1254insAAAAAA
NM_001033054.2:c.*127_*128insAAAAAA	NP_001028226.1:n.*127_*128insAAAAAA
NM_001033055.2:c.*127_*128insAAAAAA	NP_001028227.1:n.*127_*128insAAAAAA
NM_001285399.2:c.*127_*128insAAAAAA	NP_001272328.1:n.*127_*128insAAAAAA
NM_001285400.2:c.*127_*128insAAAAAA	NP_001272329.1:n.*127_*128insAAAAAA
NM_001285401.2:c.*127_*128insAAAAAA	NP_001272330.1:n.*127_*128insAAAAAA
NM_001285402.1:c.*127_*128insAAAAAA	NP_001272331.1:n.*127_*128insAAAAAA
NM_014336.4:c.*127_*128insAAAAAA	NP_055151.3:n.*127_*128insAAAAAA
NM_001033054.3:c.*127_*128insAAAAAA	NP_001028226.1:n.*127_*128insAAAAAA
NM_001033055.3:c.*127_*128insAAAAAA	NP_001028227.1:n.*127_*128insAAAAAA
NM_001285399.3:c.*127_*128insAAAAAA	NP_001272328.1:n.*127_*128insAAAAAA
NM_001285400.3:c.*127_*128insAAAAAA	NP_001272329.1:n.*127_*128insAAAAAA
NM_001285401.3:c.*127_*128insAAAAAA	NP_001272330.1:n.*127_*128insAAAAAA
NM_001285402.2:c.*127_*128insAAAAAA	NP_001272331.1:n.*127_*128insAAAAAA
NM_001285403.3:c.*1253_*1254insAAAAAA	NP_001272332.1:n.*1253_*1254insAAAAAA
NM_014336.5:c.*127_*128insAAAAAA MANE Select	NP_055151.3:n.*127_*128insAAAAAA
NM_001285403.4:c.*1253_*1254insAAAAAA	NP_001272332.1:n.*1253_*1254insAAAAAA