Canonical Allele Identifier: CA2573053721

Gene: AAAS

Linked Data

• dbSNP Id: rs2121086073

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308750_53308751dup , CM000674.2:g.53308750_53308751dup	GRCh38
NC_000012.11:g.53702534_53702535dup , CM000674.1:g.53702534_53702535dup	GRCh37
NC_000012.10:g.51988801_51988802dup	NCBI36
NG_016775.1:g.17878_17879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1061_1062dup MANE Select	ENSP00000209873.4:p.Ser355ThrfsTer?
ENST00000546562.6:n.2125_2126dup
ENST00000547238.6:n.1697_1698dup
ENST00000547520.6:n.1055_1056dup
ENST00000547757.2:c.110_111dup	ENSP00000448020.2:p.Ser38ThrfsTer?
ENST00000548880.2:n.1511_1512dup
ENST00000548931.6:c.581_582dup	ENSP00000457518.1:p.Ser195ThrfsTer?
ENST00000549450.6:n.995_996dup
ENST00000552161.6:n.2017_2018dup
ENST00000672797.1:n.1550_1551dup
ENST00000672900.1:n.2003_2004dup
ENST00000209873.8:c.1061_1062dup	ENSP00000209873.4:p.Ser355ThrfsTer?
ENST00000394384.7:c.962_963dup	ENSP00000377908.3:p.Ser322ThrfsTer?
ENST00000547520.5:n.765_766dup
ENST00000548931.5:c.581_582dup	ENSP00000457518.1:p.Ser195ThrfsTer?
ENST00000550033.5:n.316_317dup
ENST00000550286.5:c.689_690dup	ENSP00000446885.1:p.Ser231ThrfsTer?
ENST00000552876.5:n.1404_1405dup
NM_001173466.1:c.962_963dup	NP_001166937.1:p.Ser322ThrfsTer?
NM_015665.5:c.1061_1062dup	NP_056480.1:p.Ser355ThrfsTer?
XM_006719617.2:c.1076_1077dup	XP_006719680.1:p.Ser360ThrfsTer?
XM_011538777.1:c.1076_1077dup	XP_011537079.1:p.Ser360ThrfsTer?
XM_011538778.1:c.1061_1062dup	XP_011537080.1:p.Ser355ThrfsTer?
XM_011538779.1:c.977_978dup	XP_011537081.1:p.Ser327ThrfsTer?
XM_011538780.1:c.962_963dup	XP_011537082.1:p.Ser322ThrfsTer?
XM_011538781.1:c.410_411dup	XP_011537083.1:p.Ser138ThrfsTer?
XM_011538778.2:c.1061_1062dup	XP_011537080.1:p.Ser355ThrfsTer?
XM_011538780.2:c.962_963dup	XP_011537082.1:p.Ser322ThrfsTer?
XR_001748875.2:n.1118_1119dup
NM_015665.6:c.1061_1062dup MANE Select	NP_056480.1:p.Ser355ThrfsTer?
NM_001173466.2:c.962_963dup	NP_001166937.1:p.Ser322ThrfsTer?