Canonical Allele Identifier: CA624859141

Gene: AIPL1

Linked Data

• dbSNP Id: rs753988167
• gnomAD v2: 17-6328917-T-TGGGTGGCTCTGC
• gnomAD v4: 17-6425597-T-TGGGTGGCTCTGC
• MyVariant Identifiers: chr17:g.6328929_6328930insGGGTGGCTCTGC (hg19) ; chr17:g.6328917_6328918insGGGTGGCTCTGC (hg19) ; chr17:g.6425597_6425598insGGGTGGCTCTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425601_6425612dup , CM000679.2:g.6425601_6425612dup	GRCh38
NC_000017.10:g.6328921_6328932dup , CM000679.1:g.6328921_6328932dup	GRCh37
NC_000017.9:g.6269645_6269656dup	NCBI36
NG_008474.1:g.14591_14602dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1006_1017dup MANE Select	ENSP00000370521.3:p.Pro339_Thr340insAlaGluProPro
ENST00000250087.9:c.817_828dup	ENSP00000250087.5:p.Pro276_Thr277insAlaGluProPro
ENST00000381128.2:c.*878_*889dup	ENSP00000370520.2:n.*878_*889dup
ENST00000381129.7:c.1006_1017dup	ENSP00000370521.3:p.Pro339_Thr340insAlaGluProPro
ENST00000570466.5:c.940_951dup	ENSP00000461287.1:p.Pro317_Thr318insAlaGluProPro
ENST00000570584.5:c.251+8310_251+8321dup
ENST00000574506.5:c.970_981dup	ENSP00000458456.1:p.Pro327_Thr328insAlaGluProPro
ENST00000575265.5:c.*977_*988dup	ENSP00000459673.1:n.*977_*988dup
ENST00000576307.5:c.826_837dup	ENSP00000459522.1:p.Pro279_Thr280insAlaGluProPro
ENST00000576776.5:c.934_945dup	ENSP00000460827.1:p.Pro315_Thr316insAlaGluProPro
ENST00000621374.4:c.*24_*35dup	ENSP00000481337.1:n.*24_*35dup
NM_001033054.2:c.817_828dup	NP_001028226.1:p.Pro276_Thr277insAlaGluProPro
NM_001033055.2:c.826_837dup	NP_001028227.1:p.Pro279_Thr280insAlaGluProPro
NM_001285399.2:c.970_981dup	NP_001272328.1:p.Pro327_Thr328insAlaGluProPro
NM_001285400.2:c.940_951dup	NP_001272329.1:p.Pro317_Thr318insAlaGluProPro
NM_001285401.2:c.934_945dup	NP_001272330.1:p.Pro315_Thr316insAlaGluProPro
NM_001285402.1:c.889_900dup	NP_001272331.1:p.Pro300_Thr301insAlaGluProPro
NM_014336.4:c.1006_1017dup	NP_055151.3:p.Pro339_Thr340insAlaGluProPro
NM_001033054.3:c.817_828dup	NP_001028226.1:p.Pro276_Thr277insAlaGluProPro
NM_001033055.3:c.826_837dup	NP_001028227.1:p.Pro279_Thr280insAlaGluProPro
NM_001285399.3:c.970_981dup	NP_001272328.1:p.Pro327_Thr328insAlaGluProPro
NM_001285400.3:c.940_951dup	NP_001272329.1:p.Pro317_Thr318insAlaGluProPro
NM_001285401.3:c.934_945dup	NP_001272330.1:p.Pro315_Thr316insAlaGluProPro
NM_001285402.2:c.889_900dup	NP_001272331.1:p.Pro300_Thr301insAlaGluProPro
NM_001285403.3:c.*977_*988dup	NP_001272332.1:n.*977_*988dup
NM_014336.5:c.1006_1017dup MANE Select	NP_055151.3:p.Pro339_Thr340insAlaGluProPro
NM_001285403.4:c.*977_*988dup	NP_001272332.1:n.*977_*988dup