Canonical Allele Identifier: CA689917771
Gene: AAAS HGNC NCBI

Linked Data

dbSNP Id: rs1309368006

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53308796_53308813del , CM000674.2:g.53308796_53308813del GRCh38
NC_000012.11:g.53702580_53702597del , CM000674.1:g.53702580_53702597del GRCh37
NC_000012.10:g.51988847_51988864del NCBI36
NG_016775.1:g.17820_17837del

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.1003_1020del MANE Select ENSP00000209873.4:p.Cys335_Gly340del
ENST00000546393.7:n.1848_1865del
ENST00000546562.6:n.2067_2084del
ENST00000547238.6:n.1639_1656del
ENST00000547520.6:n.997_1014del
ENST00000547757.2:c.52_69del ENSP00000448020.2:p.Cys18_Gly23del
ENST00000548880.2:n.1453_1470del
ENST00000548931.6:c.523_540del ENSP00000457518.1:p.Cys175_Gly180del
ENST00000549450.6:n.937_954del
ENST00000552161.6:n.1959_1976del
ENST00000672797.1:n.1492_1509del
ENST00000672900.1:n.1945_1962del
ENST00000209873.8:c.1003_1020del ENSP00000209873.4:p.Cys335_Gly340del
ENST00000394384.7:c.904_921del ENSP00000377908.3:p.Cys302_Gly307del
ENST00000547520.5:n.707_724del
ENST00000548931.5:c.523_540del ENSP00000457518.1:p.Cys175_Gly180del
ENST00000550033.5:n.258_275del
ENST00000550286.5:c.631_648del ENSP00000446885.1:p.Cys211_Gly216del
ENST00000552876.5:n.1346_1363del
NM_001173466.1:c.904_921del NP_001166937.1:p.Cys302_Gly307del
NM_015665.5:c.1003_1020del NP_056480.1:p.Cys335_Gly340del
XM_006719617.2:c.1018_1035del XP_006719680.1:p.Cys340_Gly345del
XM_006719619.2:c.*13_*30del XP_006719682.1:n.*13_*30del
XM_011538777.1:c.1018_1035del XP_011537079.1:p.Cys340_Gly345del
XM_011538778.1:c.1003_1020del XP_011537080.1:p.Cys335_Gly340del
XM_011538779.1:c.919_936del XP_011537081.1:p.Cys307_Gly312del
XM_011538780.1:c.904_921del XP_011537082.1:p.Cys302_Gly307del
XM_011538781.1:c.352_369del XP_011537083.1:p.Cys118_Gly123del
XM_011538778.2:c.1003_1020del XP_011537080.1:p.Cys335_Gly340del
XM_011538780.2:c.904_921del XP_011537082.1:p.Cys302_Gly307del
XR_001748875.2:n.1060_1077del
NM_015665.6:c.1003_1020del MANE Select NP_056480.1:p.Cys335_Gly340del
NM_001173466.2:c.904_921del NP_001166937.1:p.Cys302_Gly307del