Canonical Allele Identifier: CA8328322

Gene: AIPL1

Linked Data

• dbSNP Id: rs764329578
• ExAC: 17:6328882 AGGTGGCTCTGTGGATGACTGTGCG / A
• MyVariant Identifiers: chr17:g.6328883_6328906del (hg19) ; chr17:g.6425563_6425586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425576_6425599del , CM000679.2:g.6425576_6425599del	GRCh38
NC_000017.10:g.6328896_6328919del , CM000679.1:g.6328896_6328919del	GRCh37
NC_000017.9:g.6269620_6269643del	NCBI36
NG_008474.1:g.14614_14637del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1029_1052del MANE Select	ENSP00000370521.3:p.Ala344_Pro351del
ENST00000250087.9:c.840_863del	ENSP00000250087.5:p.Ala281_Pro288del
ENST00000381128.2:c.*901_*924del	ENSP00000370520.2:n.*901_*924del
ENST00000381129.7:c.1029_1052del	ENSP00000370521.3:p.Ala344_Pro351del
ENST00000570466.5:c.963_986del	ENSP00000461287.1:p.Ala322_Pro329del
ENST00000570584.5:c.251+8333_251+8356del
ENST00000574506.5:c.993_1016del	ENSP00000458456.1:p.Ala332_Pro339del
ENST00000575265.5:c.*1000_*1023del	ENSP00000459673.1:n.*1000_*1023del
ENST00000576307.5:c.849_872del	ENSP00000459522.1:p.Ala284_Pro291del
ENST00000576776.5:c.957_980del	ENSP00000460827.1:p.Ala320_Pro327del
ENST00000621374.4:c.*47_*70del	ENSP00000481337.1:n.*47_*70del
NM_001033054.2:c.840_863del	NP_001028226.1:p.Ala281_Pro288del
NM_001033055.2:c.849_872del	NP_001028227.1:p.Ala284_Pro291del
NM_001285399.2:c.993_1016del	NP_001272328.1:p.Ala332_Pro339del
NM_001285400.2:c.963_986del	NP_001272329.1:p.Ala322_Pro329del
NM_001285401.2:c.957_980del	NP_001272330.1:p.Ala320_Pro327del
NM_001285402.1:c.912_935del	NP_001272331.1:p.Ala305_Pro312del
NM_014336.4:c.1029_1052del	NP_055151.3:p.Ala344_Pro351del
NM_001033054.3:c.840_863del	NP_001028226.1:p.Ala281_Pro288del
NM_001033055.3:c.849_872del	NP_001028227.1:p.Ala284_Pro291del
NM_001285399.3:c.993_1016del	NP_001272328.1:p.Ala332_Pro339del
NM_001285400.3:c.963_986del	NP_001272329.1:p.Ala322_Pro329del
NM_001285401.3:c.957_980del	NP_001272330.1:p.Ala320_Pro327del
NM_001285402.2:c.912_935del	NP_001272331.1:p.Ala305_Pro312del
NM_001285403.3:c.*1000_*1023del	NP_001272332.1:n.*1000_*1023del
NM_014336.5:c.1029_1052del MANE Select	NP_055151.3:p.Ala344_Pro351del
NM_001285403.4:c.*1000_*1023del	NP_001272332.1:n.*1000_*1023del