Canonical Allele Identifier: CA2635688829

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425469-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425470del , CM000679.2:g.6425470del	GRCh38
NC_000017.10:g.6328790del , CM000679.1:g.6328790del	GRCh37
NC_000017.9:g.6269514del	NCBI36
NG_008474.1:g.14730del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1145del MANE Select	ENSP00000370521.3:p.Leu382ArgfsTer?
ENST00000250087.9:c.956del	ENSP00000250087.5:p.Leu319ArgfsTer?
ENST00000381128.2:c.*1017del	ENSP00000370520.2:n.*1017del
ENST00000381129.7:c.1145del	ENSP00000370521.3:p.Leu382ArgfsTer?
ENST00000570466.5:c.1079del	ENSP00000461287.1:p.Leu360ArgfsTer?
ENST00000570584.5:c.251+8449del
ENST00000574506.5:c.1109del	ENSP00000458456.1:p.Leu370ArgfsTer?
ENST00000575265.5:c.*1116del	ENSP00000459673.1:n.*1116del
ENST00000576307.5:c.965del	ENSP00000459522.1:p.Leu322ArgfsTer?
ENST00000576776.5:c.1073del	ENSP00000460827.1:p.Leu358ArgfsTer?
ENST00000621374.4:c.*163del	ENSP00000481337.1:n.*163del
NM_001033054.2:c.956del	NP_001028226.1:p.Leu319ArgfsTer?
NM_001033055.2:c.965del	NP_001028227.1:p.Leu322ArgfsTer?
NM_001285399.2:c.1109del	NP_001272328.1:p.Leu370ArgfsTer?
NM_001285400.2:c.1079del	NP_001272329.1:p.Leu360ArgfsTer?
NM_001285401.2:c.1073del	NP_001272330.1:p.Leu358ArgfsTer?
NM_001285402.1:c.1028del	NP_001272331.1:p.Leu343ArgfsTer?
NM_014336.4:c.1145del	NP_055151.3:p.Leu382ArgfsTer?
NM_001033054.3:c.956del	NP_001028226.1:p.Leu319ArgfsTer?
NM_001033055.3:c.965del	NP_001028227.1:p.Leu322ArgfsTer?
NM_001285399.3:c.1109del	NP_001272328.1:p.Leu370ArgfsTer?
NM_001285400.3:c.1079del	NP_001272329.1:p.Leu360ArgfsTer?
NM_001285401.3:c.1073del	NP_001272330.1:p.Leu358ArgfsTer?
NM_001285402.2:c.1028del	NP_001272331.1:p.Leu343ArgfsTer?
NM_001285403.3:c.*1116del	NP_001272332.1:n.*1116del
NM_014336.5:c.1145del MANE Select	NP_055151.3:p.Leu382ArgfsTer?
NM_001285403.4:c.*1116del	NP_001272332.1:n.*1116del