Canonical Allele Identifier: CA2245346692

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425562_6425586delinsAGGTGGCTCTGTGGATGACTGTGCG , CM000679.2:g.6425562_6425586delinsAGGTGGCTCTGTGGATGACTGTGCG	GRCh38
NC_000017.10:g.6328882_6328906delinsAGGTGGCTCTGTGGATGACTGTGCG , CM000679.1:g.6328882_6328906delinsAGGTGGCTCTGTGGATGACTGTGCG	GRCh37
NC_000017.9:g.6269606_6269630delinsAGGTGGCTCTGTGGATGACTGTGCG	NCBI36
NG_008474.1:g.14614_14638delinsCGCACAGTCATCCACAGAGCCACCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1029_1053delinsCGCACAGTCATCCACAGAGCCACCT MANE Select	ENSP00000370521.3:p.Pro343=
ENST00000250087.9:c.840_864delinsCGCACAGTCATCCACAGAGCCACCT	ENSP00000250087.5:p.Pro280=
ENST00000381128.2:c.*901_*925delinsCGCACAGTCATCCACAGAGCCACCT	ENSP00000370520.2:n.*901_*925delinsCGCACA...
ENST00000381129.7:c.1029_1053delinsCGCACAGTCATCCACAGAGCCACCT	ENSP00000370521.3:p.Pro343=
ENST00000570466.5:c.963_987delinsCGCACAGTCATCCACAGAGCCACCT	ENSP00000461287.1:p.Pro321=
ENST00000570584.5:c.251+8333_251+8357delinsCGCACAGTCATCCACAGAGCCACCT
ENST00000574506.5:c.993_1017delinsCGCACAGTCATCCACAGAGCCACCT	ENSP00000458456.1:p.Pro331=
ENST00000575265.5:c.*1000_*1024delinsCGCACAGTCATCCACAGAGCCACCT	ENSP00000459673.1:n.*1000_*1024delinsCGCA...
ENST00000576307.5:c.849_873delinsCGCACAGTCATCCACAGAGCCACCT	ENSP00000459522.1:p.Pro283=
ENST00000576776.5:c.957_981delinsCGCACAGTCATCCACAGAGCCACCT	ENSP00000460827.1:p.Pro319=
ENST00000621374.4:c.*47_*71delinsCGCACAGTCATCCACAGAGCCACCT	ENSP00000481337.1:n.*47_*71delinsCGCACAGT...
NM_001033054.2:c.840_864delinsCGCACAGTCATCCACAGAGCCACCT	NP_001028226.1:p.Pro280=
NM_001033055.2:c.849_873delinsCGCACAGTCATCCACAGAGCCACCT	NP_001028227.1:p.Pro283=
NM_001285399.2:c.993_1017delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272328.1:p.Pro331=
NM_001285400.2:c.963_987delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272329.1:p.Pro321=
NM_001285401.2:c.957_981delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272330.1:p.Pro319=
NM_001285402.1:c.912_936delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272331.1:p.Pro304=
NM_014336.4:c.1029_1053delinsCGCACAGTCATCCACAGAGCCACCT	NP_055151.3:p.Pro343=
NM_001033054.3:c.840_864delinsCGCACAGTCATCCACAGAGCCACCT	NP_001028226.1:p.Pro280=
NM_001033055.3:c.849_873delinsCGCACAGTCATCCACAGAGCCACCT	NP_001028227.1:p.Pro283=
NM_001285399.3:c.993_1017delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272328.1:p.Pro331=
NM_001285400.3:c.963_987delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272329.1:p.Pro321=
NM_001285401.3:c.957_981delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272330.1:p.Pro319=
NM_001285402.2:c.912_936delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272331.1:p.Pro304=
NM_001285403.3:c.*1000_*1024delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272332.1:n.*1000_*1024delinsCGCACAG...
NM_014336.5:c.1029_1053delinsCGCACAGTCATCCACAGAGCCACCT MANE Select	NP_055151.3:p.Pro343=
NM_001285403.4:c.*1000_*1024delinsCGCACAGTCATCCACAGAGCCACCT	NP_001272332.1:n.*1000_*1024delinsCGCACAG...