Canonical Allele Identifier: CA2573054547

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1333409
• ClinVar RCV Id: RCV001808097
• dbSNP Id: rs2150674258

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425622_6425652dup , CM000679.2:g.6425622_6425652dup	GRCh38
NC_000017.10:g.6328942_6328972dup , CM000679.1:g.6328942_6328972dup	GRCh37
NC_000017.9:g.6269666_6269696dup	NCBI36
NG_008474.1:g.14548_14578dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.963_993dup MANE Select	ENSP00000370521.3:p.Thr332AlafsTer?
ENST00000250087.9:c.774_804dup	ENSP00000250087.5:p.Thr269AlafsTer?
ENST00000381128.2:c.*835_*865dup	ENSP00000370520.2:n.*835_*865dup
ENST00000381129.7:c.963_993dup	ENSP00000370521.3:p.Thr332AlafsTer?
ENST00000570466.5:c.897_927dup	ENSP00000461287.1:p.Thr310AlafsTer?
ENST00000570584.5:c.251+8267_251+8297dup
ENST00000574506.5:c.927_957dup	ENSP00000458456.1:p.Thr320AlafsTer?
ENST00000575265.5:c.*934_*964dup	ENSP00000459673.1:n.*934_*964dup
ENST00000576307.5:c.783_813dup	ENSP00000459522.1:p.Thr272AlafsTer?
ENST00000576776.5:c.891_921dup	ENSP00000460827.1:p.Thr308AlafsTer?
ENST00000621374.4:c.962_*11dup	ENSP00000481337.1:n.962_*11dup
NM_001033054.2:c.774_804dup	NP_001028226.1:p.Thr269AlafsTer?
NM_001033055.2:c.783_813dup	NP_001028227.1:p.Thr272AlafsTer?
NM_001285399.2:c.927_957dup	NP_001272328.1:p.Thr320AlafsTer?
NM_001285400.2:c.897_927dup	NP_001272329.1:p.Thr310AlafsTer?
NM_001285401.2:c.891_921dup	NP_001272330.1:p.Thr308AlafsTer?
NM_001285402.1:c.846_876dup	NP_001272331.1:p.Thr293AlafsTer?
NM_014336.4:c.963_993dup	NP_055151.3:p.Thr332AlafsTer?
NM_001033054.3:c.774_804dup	NP_001028226.1:p.Thr269AlafsTer?
NM_001033055.3:c.783_813dup	NP_001028227.1:p.Thr272AlafsTer?
NM_001285399.3:c.927_957dup	NP_001272328.1:p.Thr320AlafsTer?
NM_001285400.3:c.897_927dup	NP_001272329.1:p.Thr310AlafsTer?
NM_001285401.3:c.891_921dup	NP_001272330.1:p.Thr308AlafsTer?
NM_001285402.2:c.846_876dup	NP_001272331.1:p.Thr293AlafsTer?
NM_001285403.3:c.*934_*964dup	NP_001272332.1:n.*934_*964dup
NM_014336.5:c.963_993dup MANE Select	NP_055151.3:p.Thr332AlafsTer?
NM_001285403.4:c.*934_*964dup	NP_001272332.1:n.*934_*964dup