Canonical Allele Identifier: CA2635688615

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425248-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425252_6425253del , CM000679.2:g.6425252_6425253del	GRCh38
NC_000017.10:g.6328572_6328573del , CM000679.1:g.6328572_6328573del	GRCh37
NC_000017.9:g.6269296_6269297del	NCBI36
NG_008474.1:g.14950_14951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*210_*211del MANE Select	ENSP00000370521.3:n.*210_*211del
ENST00000250087.9:c.*210_*211del	ENSP00000250087.5:n.*210_*211del
ENST00000381128.2:c.*1237_*1238del	ENSP00000370520.2:n.*1237_*1238del
ENST00000381129.7:c.*210_*211del	ENSP00000370521.3:n.*210_*211del
ENST00000570584.5:c.251+8669_251+8670del
ENST00000574506.5:c.*210_*211del	ENSP00000458456.1:n.*210_*211del
NM_001033054.2:c.*210_*211del	NP_001028226.1:n.*210_*211del
NM_001033055.2:c.*210_*211del	NP_001028227.1:n.*210_*211del
NM_001285399.2:c.*210_*211del	NP_001272328.1:n.*210_*211del
NM_001285400.2:c.*210_*211del	NP_001272329.1:n.*210_*211del
NM_001285401.2:c.*210_*211del	NP_001272330.1:n.*210_*211del
NM_001285402.1:c.*210_*211del	NP_001272331.1:n.*210_*211del
NM_014336.4:c.*210_*211del	NP_055151.3:n.*210_*211del
NM_001033054.3:c.*210_*211del	NP_001028226.1:n.*210_*211del
NM_001033055.3:c.*210_*211del	NP_001028227.1:n.*210_*211del
NM_001285399.3:c.*210_*211del	NP_001272328.1:n.*210_*211del
NM_001285400.3:c.*210_*211del	NP_001272329.1:n.*210_*211del
NM_001285401.3:c.*210_*211del	NP_001272330.1:n.*210_*211del
NM_001285402.2:c.*210_*211del	NP_001272331.1:n.*210_*211del
NM_014336.5:c.*210_*211del MANE Select	NP_055151.3:n.*210_*211del
NM_001285403.4:c.*1336_*1337del	NP_001272332.1:n.*1336_*1337del