Canonical Allele Identifier: CA2036910254
Gene: AAAS HGNC NCBI

Linked Data

dbSNP Id: rs1944343974

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53309058del , CM000674.2:g.53309058del GRCh38
NC_000012.11:g.53702842del , CM000674.1:g.53702842del GRCh37
NC_000012.10:g.51989109del NCBI36
NG_016775.1:g.17571del

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.936-38del MANE Select ENSP00000209873.4:n.936-38del
ENST00000546393.7:n.1781-38del
ENST00000546562.6:n.2000-38del
ENST00000547238.6:n.1572-38del
ENST00000547520.6:n.930-38del
ENST00000547757.2:c.-16-38del ENSP00000448020.2:n.-16-38del
ENST00000548880.2:n.1386-38del
ENST00000548931.6:c.456-38del ENSP00000457518.1:n.456-38del
ENST00000549450.6:n.870-38del
ENST00000552161.6:n.1892-38del
ENST00000672797.1:n.1389-38del
ENST00000672900.1:n.1734-38del
ENST00000209873.8:c.936-38del ENSP00000209873.4:n.936-38del
ENST00000394384.7:c.837-38del ENSP00000377908.3:n.837-38del
ENST00000546572.1:n.486del
ENST00000547520.5:n.640-38del
ENST00000548931.5:c.456-38del ENSP00000457518.1:n.456-38del
ENST00000550033.5:n.191-38del
ENST00000550286.5:c.564-38del ENSP00000446885.1:n.564-38del
ENST00000552876.5:n.1279-38del
NM_001173466.1:c.837-38del NP_001166937.1:n.837-38del
NM_015665.5:c.936-38del NP_056480.1:n.936-38del
XM_006719617.2:c.951-38del XP_006719680.1:n.951-38del
XM_006719619.2:c.951-38del XP_006719682.1:n.951-38del
XM_011538777.1:c.951-38del XP_011537079.1:n.951-38del
XM_011538778.1:c.936-38del XP_011537080.1:n.936-38del
XM_011538779.1:c.852-38del XP_011537081.1:n.852-38del
XM_011538780.1:c.837-38del XP_011537082.1:n.837-38del
XM_011538781.1:c.285-38del XP_011537083.1:n.285-38del
XM_011538778.2:c.936-38del XP_011537080.1:n.936-38del
XM_011538780.2:c.837-38del XP_011537082.1:n.837-38del
XR_001748875.2:n.957-38del
NM_015665.6:c.936-38del MANE Select NP_056480.1:n.936-38del
NM_001173466.2:c.837-38del NP_001166937.1:n.837-38del