Canonical Allele Identifier: CA2619037157

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307688-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307691del , CM000674.2:g.53307691del	GRCh38
NC_000012.11:g.53701475del , CM000674.1:g.53701475del	GRCh37
NC_000012.10:g.51987742del	NCBI36
NG_016775.1:g.18940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1441del MANE Select	ENSP00000209873.4:p.His481ThrfsTer?
ENST00000546562.6:n.2505del
ENST00000547238.6:n.2077del
ENST00000547520.6:n.1557del
ENST00000547757.2:c.*359del	ENSP00000448020.2:n.*359del
ENST00000548880.2:n.1891del
ENST00000548931.6:c.876del	ENSP00000457518.1:p.Thr293HisfsTer14
ENST00000549450.6:n.1375del
ENST00000552161.6:n.2519del
ENST00000672797.1:n.1930del
ENST00000209873.8:c.1441del	ENSP00000209873.4:p.His481ThrfsTer?
ENST00000394384.7:c.1342del	ENSP00000377908.3:p.His448ThrfsTer?
ENST00000548931.5:c.876del	ENSP00000457518.1:p.Thr293HisfsTer14
ENST00000550286.5:c.1069del	ENSP00000446885.1:p.His357ThrfsTer?
ENST00000552876.5:n.1784del
NM_001173466.1:c.1342del	NP_001166937.1:p.His448ThrfsTer?
NM_015665.5:c.1441del	NP_056480.1:p.His481ThrfsTer?
XM_006719617.2:c.1456del	XP_006719680.1:p.His486ThrfsTer?
XM_011538777.1:c.1498del	XP_011537079.1:p.His500ThrfsTer?
XM_011538778.1:c.1483del	XP_011537080.1:p.His495ThrfsTer?
XM_011538779.1:c.1399del	XP_011537081.1:p.His467ThrfsTer?
XM_011538780.1:c.1384del	XP_011537082.1:p.His462ThrfsTer?
XM_011538781.1:c.832del	XP_011537083.1:p.His278ThrfsTer?
XM_011538778.2:c.1483del	XP_011537080.1:p.His495ThrfsTer?
XM_011538780.2:c.1384del	XP_011537082.1:p.His462ThrfsTer?
XR_001748875.2:n.1498del
NM_015665.6:c.1441del MANE Select	NP_056480.1:p.His481ThrfsTer?
NM_001173466.2:c.1342del	NP_001166937.1:p.His448ThrfsTer?