Canonical Allele Identifier: CA237331366

Gene: AAAS

Linked Data

• dbSNP Id: rs1016290579
• MyVariant Identifiers: chr12:g.53702778del (hg19) ; chr12:g.53308994del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308994del , CM000674.2:g.53308994del	GRCh38
NC_000012.11:g.53702778del , CM000674.1:g.53702778del	GRCh37
NC_000012.10:g.51989045del	NCBI36
NG_016775.1:g.17635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.962del MANE Select	ENSP00000209873.4:p.Cys321LeufsTer?
ENST00000546393.7:n.1807del
ENST00000546562.6:n.2026del
ENST00000547238.6:n.1598del
ENST00000547520.6:n.956del
ENST00000547757.2:c.11del	ENSP00000448020.2:p.Cys4LeufsTer?
ENST00000548880.2:n.1412del
ENST00000548931.6:c.482del	ENSP00000457518.1:p.Cys161LeufsTer?
ENST00000549450.6:n.896del
ENST00000552161.6:n.1918del
ENST00000672797.1:n.1415del
ENST00000672900.1:n.1760del
ENST00000209873.8:c.962del	ENSP00000209873.4:p.Cys321LeufsTer?
ENST00000394384.7:c.863del	ENSP00000377908.3:p.Cys288LeufsTer?
ENST00000546572.1:n.550del
ENST00000547520.5:n.666del
ENST00000548931.5:c.482del	ENSP00000457518.1:p.Cys161LeufsTer?
ENST00000550033.5:n.217del
ENST00000550286.5:c.590del	ENSP00000446885.1:p.Cys197LeufsTer?
ENST00000552876.5:n.1305del
NM_001173466.1:c.863del	NP_001166937.1:p.Cys288LeufsTer?
NM_015665.5:c.962del	NP_056480.1:p.Cys321LeufsTer?
XM_006719617.2:c.977del	XP_006719680.1:p.Cys326LeufsTer?
XM_006719619.2:c.977del	XP_006719682.1:p.Cys326LeufsTer?
XM_011538777.1:c.977del	XP_011537079.1:p.Cys326LeufsTer?
XM_011538778.1:c.962del	XP_011537080.1:p.Cys321LeufsTer?
XM_011538779.1:c.878del	XP_011537081.1:p.Cys293LeufsTer?
XM_011538780.1:c.863del	XP_011537082.1:p.Cys288LeufsTer?
XM_011538781.1:c.311del	XP_011537083.1:p.Cys104LeufsTer?
XM_011538778.2:c.962del	XP_011537080.1:p.Cys321LeufsTer?
XM_011538780.2:c.863del	XP_011537082.1:p.Cys288LeufsTer?
XR_001748875.2:n.983del
NM_015665.6:c.962del MANE Select	NP_056480.1:p.Cys321LeufsTer?
NM_001173466.2:c.863del	NP_001166937.1:p.Cys288LeufsTer?