Canonical Allele Identifier: CA6598817
Gene: AAAS HGNC NCBI

Linked Data

dbSNP Id: rs762604025

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53307651del , CM000674.2:g.53307651del GRCh38
NC_000012.11:g.53701435del , CM000674.1:g.53701435del GRCh37
NC_000012.10:g.51987702del NCBI36
NG_016775.1:g.18981del

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.1482del MANE Select ENSP00000209873.4:p.Phe494LeufsTer?
ENST00000546562.6:n.2546del
ENST00000547238.6:n.2118del
ENST00000547520.6:n.1598del
ENST00000547757.2:c.*400del ENSP00000448020.2:n.*400del
ENST00000548880.2:n.1932del
ENST00000548931.6:c.917del ENSP00000457518.1:p.Leu306Ter
ENST00000549450.6:n.1416del
ENST00000552161.6:n.2560del
ENST00000672797.1:n.1971del
ENST00000209873.8:c.1482del ENSP00000209873.4:p.Phe494LeufsTer?
ENST00000394384.7:c.1383del ENSP00000377908.3:p.Phe461LeufsTer?
ENST00000548931.5:c.917del ENSP00000457518.1:p.Leu306Ter
ENST00000550286.5:c.1110del ENSP00000446885.1:p.Phe370LeufsTer?
ENST00000552876.5:n.1825del
NM_001173466.1:c.1383del NP_001166937.1:p.Phe461LeufsTer?
NM_015665.5:c.1482del NP_056480.1:p.Phe494LeufsTer?
XM_006719617.2:c.1497del XP_006719680.1:p.Phe499LeufsTer?
XM_011538777.1:c.1539del XP_011537079.1:p.Phe513LeufsTer?
XM_011538778.1:c.1524del XP_011537080.1:p.Phe508LeufsTer?
XM_011538779.1:c.1440del XP_011537081.1:p.Phe480LeufsTer?
XM_011538780.1:c.1425del XP_011537082.1:p.Phe475LeufsTer?
XM_011538781.1:c.873del XP_011537083.1:p.Phe291LeufsTer?
XM_011538778.2:c.1524del XP_011537080.1:p.Phe508LeufsTer?
XM_011538780.2:c.1425del XP_011537082.1:p.Phe475LeufsTer?
XR_001748875.2:n.1539del
NM_015665.6:c.1482del MANE Select NP_056480.1:p.Phe494LeufsTer?
NM_001173466.2:c.1383del NP_001166937.1:p.Phe461LeufsTer?