Canonical Allele Identifier: CA981100395

Gene: AIPL1

Linked Data

• gnomAD v3: 17-6425329-TGGG-T
• gnomAD v4: 17-6425329-TGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425330_6425332del , CM000679.2:g.6425330_6425332del	GRCh38
NC_000017.10:g.6328650_6328652del , CM000679.1:g.6328650_6328652del	GRCh37
NC_000017.9:g.6269374_6269376del	NCBI36
NG_008474.1:g.14868_14870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*128_*130del MANE Select	ENSP00000370521.3:n.*128_*130del
ENST00000250087.9:c.*128_*130del	ENSP00000250087.5:n.*128_*130del
ENST00000381128.2:c.*1155_*1157del	ENSP00000370520.2:n.*1155_*1157del
ENST00000381129.7:c.*128_*130del	ENSP00000370521.3:n.*128_*130del
ENST00000570584.5:c.251+8587_251+8589del
ENST00000574506.5:c.*128_*130del	ENSP00000458456.1:n.*128_*130del
ENST00000575265.5:c.*1254_*1256del	ENSP00000459673.1:n.*1254_*1256del
NM_001033054.2:c.*128_*130del	NP_001028226.1:n.*128_*130del
NM_001033055.2:c.*128_*130del	NP_001028227.1:n.*128_*130del
NM_001285399.2:c.*128_*130del	NP_001272328.1:n.*128_*130del
NM_001285400.2:c.*128_*130del	NP_001272329.1:n.*128_*130del
NM_001285401.2:c.*128_*130del	NP_001272330.1:n.*128_*130del
NM_001285402.1:c.*128_*130del	NP_001272331.1:n.*128_*130del
NM_014336.4:c.*128_*130del	NP_055151.3:n.*128_*130del
NM_001033054.3:c.*128_*130del	NP_001028226.1:n.*128_*130del
NM_001033055.3:c.*128_*130del	NP_001028227.1:n.*128_*130del
NM_001285399.3:c.*128_*130del	NP_001272328.1:n.*128_*130del
NM_001285400.3:c.*128_*130del	NP_001272329.1:n.*128_*130del
NM_001285401.3:c.*128_*130del	NP_001272330.1:n.*128_*130del
NM_001285402.2:c.*128_*130del	NP_001272331.1:n.*128_*130del
NM_001285403.3:c.*1254_*1256del	NP_001272332.1:n.*1254_*1256del
NM_014336.5:c.*128_*130del MANE Select	NP_055151.3:n.*128_*130del
NM_001285403.4:c.*1254_*1256del	NP_001272332.1:n.*1254_*1256del