Canonical Allele Identifier: CA227863

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 5566
• ClinVar RCV Id: RCV000005907 ; RCV000086209
• dbSNP Id: rs62637016
• MyVariant Identifiers: chr17:g.6328924_6328925del (hg19) ; chr17:g.6425604_6425605del (hg38)
• PubMed: PMID:10615133

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425606_6425607del , CM000679.2:g.6425606_6425607del	GRCh38
NC_000017.10:g.6328926_6328927del , CM000679.1:g.6328926_6328927del	GRCh37
NC_000017.9:g.6269650_6269651del	NCBI36
NG_008474.1:g.14595_14596del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1010_1011del MANE Select	ENSP00000370521.3:p.Glu337AlafsTer?
ENST00000250087.9:c.821_822del	ENSP00000250087.5:p.Glu274AlafsTer?
ENST00000381128.2:c.*882_*883del	ENSP00000370520.2:n.*882_*883del
ENST00000381129.7:c.1010_1011del	ENSP00000370521.3:p.Glu337AlafsTer?
ENST00000570466.5:c.944_945del	ENSP00000461287.1:p.Glu315AlafsTer?
ENST00000570584.5:c.251+8314_251+8315del
ENST00000574506.5:c.974_975del	ENSP00000458456.1:p.Glu325AlafsTer?
ENST00000575265.5:c.*981_*982del	ENSP00000459673.1:n.*981_*982del
ENST00000576307.5:c.830_831del	ENSP00000459522.1:p.Glu277AlafsTer?
ENST00000576776.5:c.938_939del	ENSP00000460827.1:p.Glu313AlafsTer?
ENST00000621374.4:c.*28_*29del	ENSP00000481337.1:n.*28_*29del
NM_001033054.2:c.821_822del	NP_001028226.1:p.Glu274AlafsTer?
NM_001033055.2:c.830_831del	NP_001028227.1:p.Glu277AlafsTer?
NM_001285399.2:c.974_975del	NP_001272328.1:p.Glu325AlafsTer?
NM_001285400.2:c.944_945del	NP_001272329.1:p.Glu315AlafsTer?
NM_001285401.2:c.938_939del	NP_001272330.1:p.Glu313AlafsTer?
NM_001285402.1:c.893_894del	NP_001272331.1:p.Glu298AlafsTer?
NM_014336.4:c.1010_1011del	NP_055151.3:p.Glu337AlafsTer?
NM_001033054.3:c.821_822del	NP_001028226.1:p.Glu274AlafsTer?
NM_001033055.3:c.830_831del	NP_001028227.1:p.Glu277AlafsTer?
NM_001285399.3:c.974_975del	NP_001272328.1:p.Glu325AlafsTer?
NM_001285400.3:c.944_945del	NP_001272329.1:p.Glu315AlafsTer?
NM_001285401.3:c.938_939del	NP_001272330.1:p.Glu313AlafsTer?
NM_001285402.2:c.893_894del	NP_001272331.1:p.Glu298AlafsTer?
NM_001285403.3:c.*981_*982del	NP_001272332.1:n.*981_*982del
NM_014336.5:c.1010_1011del MANE Select	NP_055151.3:p.Glu337AlafsTer?
NM_001285403.4:c.*981_*982del	NP_001272332.1:n.*981_*982del