Canonical Allele Identifier: CA605243798

Gene: AAAS

Linked Data

• dbSNP Id: rs1388147208
• gnomAD v2: 12-53701461-AC-A
• gnomAD v4: 12-53307677-AC-A
• MyVariant Identifiers: chr12:g.53701462del (hg19) ; chr12:g.53307678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307678del , CM000674.2:g.53307678del	GRCh38
NC_000012.11:g.53701462del , CM000674.1:g.53701462del	GRCh37
NC_000012.10:g.51987729del	NCBI36
NG_016775.1:g.18951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1452del MANE Select	ENSP00000209873.4:p.Tyr485ThrfsTer?
ENST00000546562.6:n.2516del
ENST00000547238.6:n.2088del
ENST00000547520.6:n.1568del
ENST00000547757.2:c.*370del	ENSP00000448020.2:n.*370del
ENST00000548880.2:n.1902del
ENST00000548931.6:c.887del	ENSP00000457518.1:p.Cys296LeufsTer11
ENST00000549450.6:n.1386del
ENST00000552161.6:n.2530del
ENST00000672797.1:n.1941del
ENST00000209873.8:c.1452del	ENSP00000209873.4:p.Tyr485ThrfsTer?
ENST00000394384.7:c.1353del	ENSP00000377908.3:p.Tyr452ThrfsTer?
ENST00000548931.5:c.887del	ENSP00000457518.1:p.Cys296LeufsTer11
ENST00000550286.5:c.1080del	ENSP00000446885.1:p.Tyr361ThrfsTer?
ENST00000552876.5:n.1795del
NM_001173466.1:c.1353del	NP_001166937.1:p.Tyr452ThrfsTer?
NM_015665.5:c.1452del	NP_056480.1:p.Tyr485ThrfsTer?
XM_006719617.2:c.1467del	XP_006719680.1:p.Tyr490ThrfsTer?
XM_011538777.1:c.1509del	XP_011537079.1:p.Tyr504ThrfsTer?
XM_011538778.1:c.1494del	XP_011537080.1:p.Tyr499ThrfsTer?
XM_011538779.1:c.1410del	XP_011537081.1:p.Tyr471ThrfsTer?
XM_011538780.1:c.1395del	XP_011537082.1:p.Tyr466ThrfsTer?
XM_011538781.1:c.843del	XP_011537083.1:p.Tyr282ThrfsTer?
XM_011538778.2:c.1494del	XP_011537080.1:p.Tyr499ThrfsTer?
XM_011538780.2:c.1395del	XP_011537082.1:p.Tyr466ThrfsTer?
XR_001748875.2:n.1509del
NM_015665.6:c.1452del MANE Select	NP_056480.1:p.Tyr485ThrfsTer?
NM_001173466.2:c.1353del	NP_001166937.1:p.Tyr452ThrfsTer?