Canonical Allele Identifier: CA2695224199

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425688_6425689insAGCTCCCTGCGGTTCAGG , CM000679.2:g.6425688_6425689insAGCTCCCTGCGGTTCAGG	GRCh38
NC_000017.10:g.6329008_6329009insAGCTCCCTGCGGTTCAGG , CM000679.1:g.6329008_6329009insAGCTCCCTGCGGTTCAGG	GRCh37
NC_000017.9:g.6269732_6269733insAGCTCCCTGCGGTTCAGG	NCBI36
NG_008474.1:g.14511_14512insCCTGAACCGCAGGGAGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.926_927insCCTGAACCGCAGGGAGCT MANE Select	ENSP00000370521.3:p.Glu309delinsAspLeuAsn...
ENST00000250087.9:c.737_738insCCTGAACCGCAGGGAGCT	ENSP00000250087.5:p.Glu246delinsAspLeuAsn...
ENST00000381128.2:c.*798_*799insCCTGAACCGCAGGGAGCT	ENSP00000370520.2:n.*798_*799insCCTGAACCG...
ENST00000381129.7:c.926_927insCCTGAACCGCAGGGAGCT	ENSP00000370521.3:p.Glu309delinsAspLeuAsn...
ENST00000570466.5:c.860_861insCCTGAACCGCAGGGAGCT	ENSP00000461287.1:p.Glu287delinsAspLeuAsn...
ENST00000570584.5:c.251+8230_251+8231insCCTGAACCGCAGGGAGCT
ENST00000574506.5:c.890_891insCCTGAACCGCAGGGAGCT	ENSP00000458456.1:p.Glu297delinsAspLeuAsn...
ENST00000575265.5:c.*897_*898insCCTGAACCGCAGGGAGCT	ENSP00000459673.1:n.*897_*898insCCTGAACCG...
ENST00000576307.5:c.746_747insCCTGAACCGCAGGGAGCT	ENSP00000459522.1:p.Glu249delinsAspLeuAsn...
ENST00000576776.5:c.854_855insCCTGAACCGCAGGGAGCT	ENSP00000460827.1:p.Glu285delinsAspLeuAsn...
ENST00000621374.4:c.926_927insCCTGAACCGCAGGGAGCT	ENSP00000481337.1:p.Glu309delinsAspLeuAsn...
NM_001033054.2:c.737_738insCCTGAACCGCAGGGAGCT	NP_001028226.1:p.Glu246delinsAspLeuAsnArg...
NM_001033055.2:c.746_747insCCTGAACCGCAGGGAGCT	NP_001028227.1:p.Glu249delinsAspLeuAsnArg...
NM_001285399.2:c.890_891insCCTGAACCGCAGGGAGCT	NP_001272328.1:p.Glu297delinsAspLeuAsnArg...
NM_001285400.2:c.860_861insCCTGAACCGCAGGGAGCT	NP_001272329.1:p.Glu287delinsAspLeuAsnArg...
NM_001285401.2:c.854_855insCCTGAACCGCAGGGAGCT	NP_001272330.1:p.Glu285delinsAspLeuAsnArg...
NM_001285402.1:c.809_810insCCTGAACCGCAGGGAGCT	NP_001272331.1:p.Glu270delinsAspLeuAsnArg...
NM_014336.4:c.926_927insCCTGAACCGCAGGGAGCT	NP_055151.3:p.Glu309delinsAspLeuAsnArgArg...
NM_001033054.3:c.737_738insCCTGAACCGCAGGGAGCT	NP_001028226.1:p.Glu246delinsAspLeuAsnArg...
NM_001033055.3:c.746_747insCCTGAACCGCAGGGAGCT	NP_001028227.1:p.Glu249delinsAspLeuAsnArg...
NM_001285399.3:c.890_891insCCTGAACCGCAGGGAGCT	NP_001272328.1:p.Glu297delinsAspLeuAsnArg...
NM_001285400.3:c.860_861insCCTGAACCGCAGGGAGCT	NP_001272329.1:p.Glu287delinsAspLeuAsnArg...
NM_001285401.3:c.854_855insCCTGAACCGCAGGGAGCT	NP_001272330.1:p.Glu285delinsAspLeuAsnArg...
NM_001285402.2:c.809_810insCCTGAACCGCAGGGAGCT	NP_001272331.1:p.Glu270delinsAspLeuAsnArg...
NM_001285403.3:c.*897_*898insCCTGAACCGCAGGGAGCT	NP_001272332.1:n.*897_*898insCCTGAACCGCAG...
NM_014336.5:c.926_927insCCTGAACCGCAGGGAGCT MANE Select	NP_055151.3:p.Glu309delinsAspLeuAsnArgArg...
NM_001285403.4:c.*897_*898insCCTGAACCGCAGGGAGCT	NP_001272332.1:n.*897_*898insCCTGAACCGCAG...