Canonical Allele Identifier: CA2635688839

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425618-G-GACTAACACT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425618_6425619insACTAACACT , CM000679.2:g.6425618_6425619insACTAACACT	GRCh38
NC_000017.10:g.6328938_6328939insACTAACACT , CM000679.1:g.6328938_6328939insACTAACACT	GRCh37
NC_000017.9:g.6269662_6269663insACTAACACT	NCBI36
NG_008474.1:g.14581_14582insAGTGTTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.996_997insAGTGTTAGT MANE Select	ENSP00000370521.3:p.Thr332_Gln333insSerValSer
ENST00000250087.9:c.807_808insAGTGTTAGT	ENSP00000250087.5:p.Thr269_Gln270insSerValSer
ENST00000381128.2:c.*868_*869insAGTGTTAGT	ENSP00000370520.2:n.*868_*869insAGTGTTAGT
ENST00000381129.7:c.996_997insAGTGTTAGT	ENSP00000370521.3:p.Thr332_Gln333insSerValSer
ENST00000570466.5:c.930_931insAGTGTTAGT	ENSP00000461287.1:p.Thr310_Gln311insSerValSer
ENST00000570584.5:c.251+8300_251+8301insAGTGTTAGT
ENST00000574506.5:c.960_961insAGTGTTAGT	ENSP00000458456.1:p.Thr320_Gln321insSerValSer
ENST00000575265.5:c.*967_*968insAGTGTTAGT	ENSP00000459673.1:n.*967_*968insAGTGTTAGT
ENST00000576307.5:c.816_817insAGTGTTAGT	ENSP00000459522.1:p.Thr272_Gln273insSerValSer
ENST00000576776.5:c.924_925insAGTGTTAGT	ENSP00000460827.1:p.Thr308_Gln309insSerValSer
ENST00000621374.4:c.*14_*15insAGTGTTAGT	ENSP00000481337.1:n.*14_*15insAGTGTTAGT
NM_001033054.2:c.807_808insAGTGTTAGT	NP_001028226.1:p.Thr269_Gln270insSerValSer
NM_001033055.2:c.816_817insAGTGTTAGT	NP_001028227.1:p.Thr272_Gln273insSerValSer
NM_001285399.2:c.960_961insAGTGTTAGT	NP_001272328.1:p.Thr320_Gln321insSerValSer
NM_001285400.2:c.930_931insAGTGTTAGT	NP_001272329.1:p.Thr310_Gln311insSerValSer
NM_001285401.2:c.924_925insAGTGTTAGT	NP_001272330.1:p.Thr308_Gln309insSerValSer
NM_001285402.1:c.879_880insAGTGTTAGT	NP_001272331.1:p.Thr293_Gln294insSerValSer
NM_014336.4:c.996_997insAGTGTTAGT	NP_055151.3:p.Thr332_Gln333insSerValSer
NM_001033054.3:c.807_808insAGTGTTAGT	NP_001028226.1:p.Thr269_Gln270insSerValSer
NM_001033055.3:c.816_817insAGTGTTAGT	NP_001028227.1:p.Thr272_Gln273insSerValSer
NM_001285399.3:c.960_961insAGTGTTAGT	NP_001272328.1:p.Thr320_Gln321insSerValSer
NM_001285400.3:c.930_931insAGTGTTAGT	NP_001272329.1:p.Thr310_Gln311insSerValSer
NM_001285401.3:c.924_925insAGTGTTAGT	NP_001272330.1:p.Thr308_Gln309insSerValSer
NM_001285402.2:c.879_880insAGTGTTAGT	NP_001272331.1:p.Thr293_Gln294insSerValSer
NM_001285403.3:c.*967_*968insAGTGTTAGT	NP_001272332.1:n.*967_*968insAGTGTTAGT
NM_014336.5:c.996_997insAGTGTTAGT MANE Select	NP_055151.3:p.Thr332_Gln333insSerValSer
NM_001285403.4:c.*967_*968insAGTGTTAGT	NP_001272332.1:n.*967_*968insAGTGTTAGT