Canonical Allele Identifier: CA2575173816

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307599_53307600dup , CM000674.2:g.53307599_53307600dup	GRCh38
NC_000012.11:g.53701383_53701384dup , CM000674.1:g.53701383_53701384dup	GRCh37
NC_000012.10:g.51987650_51987651dup	NCBI36
NG_016775.1:g.19031_19032dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1532_1533dup MANE Select	ENSP00000209873.4:p.Ile512LeufsTer?
ENST00000546562.6:n.2596_2597dup
ENST00000547238.6:n.2168_2169dup
ENST00000547520.6:n.1648_1649dup
ENST00000547757.2:c.*450_*451dup	ENSP00000448020.2:n.*450_*451dup
ENST00000548931.6:c.967_968dup	ENSP00000457518.1:p.Phe324TyrfsTer3
ENST00000549450.6:n.1466_1467dup
ENST00000672797.1:n.2021_2022dup
ENST00000209873.8:c.1532_1533dup	ENSP00000209873.4:p.Ile512LeufsTer?
ENST00000394384.7:c.1433_1434dup	ENSP00000377908.3:p.Ile479LeufsTer?
ENST00000548931.5:c.967_968dup	ENSP00000457518.1:p.Phe324TyrfsTer3
ENST00000550286.5:c.1160_1161dup	ENSP00000446885.1:p.Ile388LeufsTer?
ENST00000552876.5:n.1875_1876dup
NM_001173466.1:c.1433_1434dup	NP_001166937.1:p.Ile479LeufsTer?
NM_015665.5:c.1532_1533dup	NP_056480.1:p.Ile512LeufsTer?
XM_006719617.2:c.1547_1548dup	XP_006719680.1:p.Ile517LeufsTer?
XM_011538777.1:c.1589_1590dup	XP_011537079.1:p.Ile531LeufsTer?
XM_011538778.1:c.1574_1575dup	XP_011537080.1:p.Ile526LeufsTer?
XM_011538779.1:c.1490_1491dup	XP_011537081.1:p.Ile498LeufsTer?
XM_011538780.1:c.1475_1476dup	XP_011537082.1:p.Ile493LeufsTer?
XM_011538781.1:c.923_924dup	XP_011537083.1:p.Ile309LeufsTer?
XM_011538778.2:c.1574_1575dup	XP_011537080.1:p.Ile526LeufsTer?
XM_011538780.2:c.1475_1476dup	XP_011537082.1:p.Ile493LeufsTer?
XR_001748875.2:n.1589_1590dup
NM_015665.6:c.1532_1533dup MANE Select	NP_056480.1:p.Ile512LeufsTer?
NM_001173466.2:c.1433_1434dup	NP_001166937.1:p.Ile479LeufsTer?