Canonical Allele Identifier: CA8328330

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1978650
• ClinVar RCV Id: RCV002741901
• dbSNP Id: rs753988167
• ExAC: 17:6328917 TGGGTGGCTCTGC / T
• gnomAD v2: 17-6328917-TGGGTGGCTCTGC-T
• gnomAD v4: 17-6425597-TGGGTGGCTCTGC-T
• MyVariant Identifiers: chr17:g.6328918_6328929del (hg19) ; chr17:g.6425598_6425609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425601_6425612del , CM000679.2:g.6425601_6425612del	GRCh38
NC_000017.10:g.6328921_6328932del , CM000679.1:g.6328921_6328932del	GRCh37
NC_000017.9:g.6269645_6269656del	NCBI36
NG_008474.1:g.14591_14602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1006_1017del MANE Select	ENSP00000370521.3:p.Ala336_Pro339del
ENST00000250087.9:c.817_828del	ENSP00000250087.5:p.Ala273_Pro276del
ENST00000381128.2:c.*878_*889del	ENSP00000370520.2:n.*878_*889del
ENST00000381129.7:c.1006_1017del	ENSP00000370521.3:p.Ala336_Pro339del
ENST00000570466.5:c.940_951del	ENSP00000461287.1:p.Ala314_Pro317del
ENST00000570584.5:c.251+8310_251+8321del
ENST00000574506.5:c.970_981del	ENSP00000458456.1:p.Ala324_Pro327del
ENST00000575265.5:c.*977_*988del	ENSP00000459673.1:n.*977_*988del
ENST00000576307.5:c.826_837del	ENSP00000459522.1:p.Ala276_Pro279del
ENST00000576776.5:c.934_945del	ENSP00000460827.1:p.Ala312_Pro315del
ENST00000621374.4:c.*24_*35del	ENSP00000481337.1:n.*24_*35del
NM_001033054.2:c.817_828del	NP_001028226.1:p.Ala273_Pro276del
NM_001033055.2:c.826_837del	NP_001028227.1:p.Ala276_Pro279del
NM_001285399.2:c.970_981del	NP_001272328.1:p.Ala324_Pro327del
NM_001285400.2:c.940_951del	NP_001272329.1:p.Ala314_Pro317del
NM_001285401.2:c.934_945del	NP_001272330.1:p.Ala312_Pro315del
NM_001285402.1:c.889_900del	NP_001272331.1:p.Ala297_Pro300del
NM_014336.4:c.1006_1017del	NP_055151.3:p.Ala336_Pro339del
NM_001033054.3:c.817_828del	NP_001028226.1:p.Ala273_Pro276del
NM_001033055.3:c.826_837del	NP_001028227.1:p.Ala276_Pro279del
NM_001285399.3:c.970_981del	NP_001272328.1:p.Ala324_Pro327del
NM_001285400.3:c.940_951del	NP_001272329.1:p.Ala314_Pro317del
NM_001285401.3:c.934_945del	NP_001272330.1:p.Ala312_Pro315del
NM_001285402.2:c.889_900del	NP_001272331.1:p.Ala297_Pro300del
NM_001285403.3:c.*977_*988del	NP_001272332.1:n.*977_*988del
NM_014336.5:c.1006_1017del MANE Select	NP_055151.3:p.Ala336_Pro339del
NM_001285403.4:c.*977_*988del	NP_001272332.1:n.*977_*988del