Canonical Allele Identifier: CA2036909523

Gene: AAAS

Linked Data

• dbSNP Id: rs1944305720

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307577_53307578del , CM000674.2:g.53307577_53307578del	GRCh38
NC_000012.11:g.53701361_53701362del , CM000674.1:g.53701361_53701362del	GRCh37
NC_000012.10:g.51987628_51987629del	NCBI36
NG_016775.1:g.19052_19053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1553_1554del MANE Select	ENSP00000209873.4:p.Phe518TyrfsTer2
ENST00000546562.6:n.2617_2618del
ENST00000547238.6:n.2189_2190del
ENST00000547520.6:n.1669_1670del
ENST00000547757.2:c.*471_*472del	ENSP00000448020.2:n.*471_*472del
ENST00000548931.6:c.988_989del	ENSP00000457518.1:p.Leu330ThrfsTer29
ENST00000549450.6:n.1487_1488del
ENST00000672797.1:n.2042_2043del
ENST00000209873.8:c.1553_1554del	ENSP00000209873.4:p.Phe518TyrfsTer2
ENST00000394384.7:c.1454_1455del	ENSP00000377908.3:p.Phe485TyrfsTer2
ENST00000548931.5:c.988_989del	ENSP00000457518.1:p.Leu330ThrfsTer?
ENST00000550286.5:c.1181_1182del	ENSP00000446885.1:p.Phe394TyrfsTer2
ENST00000552876.5:n.1896_1897del
NM_001173466.1:c.1454_1455del	NP_001166937.1:p.Phe485TyrfsTer2
NM_015665.5:c.1553_1554del	NP_056480.1:p.Phe518TyrfsTer2
XM_006719617.2:c.1568_1569del	XP_006719680.1:p.Phe523TyrfsTer2
XM_011538777.1:c.1610_1611del	XP_011537079.1:p.Phe537TyrfsTer2
XM_011538778.1:c.1595_1596del	XP_011537080.1:p.Phe532TyrfsTer2
XM_011538779.1:c.1511_1512del	XP_011537081.1:p.Phe504TyrfsTer2
XM_011538780.1:c.1496_1497del	XP_011537082.1:p.Phe499TyrfsTer2
XM_011538781.1:c.944_945del	XP_011537083.1:p.Phe315TyrfsTer2
XM_011538778.2:c.1595_1596del	XP_011537080.1:p.Phe532TyrfsTer2
XM_011538780.2:c.1496_1497del	XP_011537082.1:p.Phe499TyrfsTer2
XR_001748875.2:n.1610_1611del
NM_015665.6:c.1553_1554del MANE Select	NP_056480.1:p.Phe518TyrfsTer2
NM_001173466.2:c.1454_1455del	NP_001166937.1:p.Phe485TyrfsTer2