Canonical Allele Identifier: CA2635688705

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425313-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425313_6425314insG , CM000679.2:g.6425313_6425314insG	GRCh38
NC_000017.10:g.6328633_6328634insG , CM000679.1:g.6328633_6328634insG	GRCh37
NC_000017.9:g.6269357_6269358insG	NCBI36
NG_008474.1:g.14886_14887insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*146_*147insC MANE Select	ENSP00000370521.3:n.*146_*147insC
ENST00000250087.9:c.*146_*147insC	ENSP00000250087.5:n.*146_*147insC
ENST00000381128.2:c.*1173_*1174insC	ENSP00000370520.2:n.*1173_*1174insC
ENST00000381129.7:c.*146_*147insC	ENSP00000370521.3:n.*146_*147insC
ENST00000570584.5:c.251+8605_251+8606insC
ENST00000574506.5:c.*146_*147insC	ENSP00000458456.1:n.*146_*147insC
ENST00000575265.5:c.*1272_*1273insC	ENSP00000459673.1:n.*1272_*1273insC
NM_001033054.2:c.*146_*147insC	NP_001028226.1:n.*146_*147insC
NM_001033055.2:c.*146_*147insC	NP_001028227.1:n.*146_*147insC
NM_001285399.2:c.*146_*147insC	NP_001272328.1:n.*146_*147insC
NM_001285400.2:c.*146_*147insC	NP_001272329.1:n.*146_*147insC
NM_001285401.2:c.*146_*147insC	NP_001272330.1:n.*146_*147insC
NM_001285402.1:c.*146_*147insC	NP_001272331.1:n.*146_*147insC
NM_014336.4:c.*146_*147insC	NP_055151.3:n.*146_*147insC
NM_001033054.3:c.*146_*147insC	NP_001028226.1:n.*146_*147insC
NM_001033055.3:c.*146_*147insC	NP_001028227.1:n.*146_*147insC
NM_001285399.3:c.*146_*147insC	NP_001272328.1:n.*146_*147insC
NM_001285400.3:c.*146_*147insC	NP_001272329.1:n.*146_*147insC
NM_001285401.3:c.*146_*147insC	NP_001272330.1:n.*146_*147insC
NM_001285402.2:c.*146_*147insC	NP_001272331.1:n.*146_*147insC
NM_001285403.3:c.*1272_*1273insC	NP_001272332.1:n.*1272_*1273insC
NM_014336.5:c.*146_*147insC MANE Select	NP_055151.3:n.*146_*147insC
NM_001285403.4:c.*1272_*1273insC	NP_001272332.1:n.*1272_*1273insC