Canonical Allele Identifier: CA916083523

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 867131
• ClinVar RCV Id: RCV001075690
• dbSNP Id: rs1911857086

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425659_6425678dup , CM000679.2:g.6425659_6425678dup	GRCh38
NC_000017.10:g.6328979_6328998dup , CM000679.1:g.6328979_6328998dup	GRCh37
NC_000017.9:g.6269703_6269722dup	NCBI36
NG_008474.1:g.14526_14545dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.941_960dup MANE Select	ENSP00000370521.3:p.Leu321ArgfsTer14
ENST00000250087.9:c.752_771dup	ENSP00000250087.5:p.Leu258ArgfsTer14
ENST00000381128.2:c.*813_*832dup	ENSP00000370520.2:n.*813_*832dup
ENST00000381129.7:c.941_960dup	ENSP00000370521.3:p.Leu321ArgfsTer14
ENST00000570466.5:c.875_894dup	ENSP00000461287.1:p.Leu299ArgfsTer14
ENST00000570584.5:c.251+8245_251+8264dup
ENST00000574506.5:c.905_924dup	ENSP00000458456.1:p.Leu309ArgfsTer14
ENST00000575265.5:c.*912_*931dup	ENSP00000459673.1:n.*912_*931dup
ENST00000576307.5:c.761_780dup	ENSP00000459522.1:p.Leu261ArgfsTer14
ENST00000576776.5:c.869_888dup	ENSP00000460827.1:p.Leu297ArgfsTer14
ENST00000621374.4:c.940_959dup	ENSP00000481337.1:p.Cys321GlufsTer?
NM_001033054.2:c.752_771dup	NP_001028226.1:p.Leu258ArgfsTer14
NM_001033055.2:c.761_780dup	NP_001028227.1:p.Leu261ArgfsTer14
NM_001285399.2:c.905_924dup	NP_001272328.1:p.Leu309ArgfsTer14
NM_001285400.2:c.875_894dup	NP_001272329.1:p.Leu299ArgfsTer14
NM_001285401.2:c.869_888dup	NP_001272330.1:p.Leu297ArgfsTer14
NM_001285402.1:c.824_843dup	NP_001272331.1:p.Leu282ArgfsTer14
NM_014336.4:c.941_960dup	NP_055151.3:p.Leu321ArgfsTer14
NM_001033054.3:c.752_771dup	NP_001028226.1:p.Leu258ArgfsTer14
NM_001033055.3:c.761_780dup	NP_001028227.1:p.Leu261ArgfsTer14
NM_001285399.3:c.905_924dup	NP_001272328.1:p.Leu309ArgfsTer14
NM_001285400.3:c.875_894dup	NP_001272329.1:p.Leu299ArgfsTer14
NM_001285401.3:c.869_888dup	NP_001272330.1:p.Leu297ArgfsTer14
NM_001285402.2:c.824_843dup	NP_001272331.1:p.Leu282ArgfsTer14
NM_001285403.3:c.*912_*931dup	NP_001272332.1:n.*912_*931dup
NM_014336.5:c.941_960dup MANE Select	NP_055151.3:p.Leu321ArgfsTer14
NM_001285403.4:c.*912_*931dup	NP_001272332.1:n.*912_*931dup