Canonical Allele Identifier: CA2036897480

Gene: AAAS

Linked Data

• dbSNP Id: rs1944302116

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307468_53307478del , CM000674.2:g.53307468_53307478del	GRCh38
NC_000012.11:g.53701252_53701262del , CM000674.1:g.53701252_53701262del	GRCh37
NC_000012.10:g.51987519_51987529del	NCBI36
NG_016775.1:g.19158_19168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.*18_*28del MANE Select	ENSP00000209873.4:n.*18_*28del
ENST00000548931.6:c.1094_1104del	ENSP00000457518.1:n.1094_1104del
ENST00000549450.6:n.1593_1603del
ENST00000209873.8:c.*18_*28del	ENSP00000209873.4:n.*18_*28del
ENST00000394384.7:c.*18_*28del	ENSP00000377908.3:n.*18_*28del
ENST00000550286.5:c.*18_*28del	ENSP00000446885.1:n.*18_*28del
ENST00000552876.5:n.2002_2012del
NM_001173466.1:c.*18_*28del	NP_001166937.1:n.*18_*28del
NM_015665.5:c.*18_*28del	NP_056480.1:n.*18_*28del
XM_006719617.2:c.*18_*28del	XP_006719680.1:n.*18_*28del
XM_011538777.1:c.*18_*28del	XP_011537079.1:n.*18_*28del
XM_011538778.1:c.*18_*28del	XP_011537080.1:n.*18_*28del
XM_011538779.1:c.*18_*28del	XP_011537081.1:n.*18_*28del
XM_011538780.1:c.*18_*28del	XP_011537082.1:n.*18_*28del
XM_011538781.1:c.*18_*28del	XP_011537083.1:n.*18_*28del
XM_011538778.2:c.*18_*28del	XP_011537080.1:n.*18_*28del
XM_011538780.2:c.*18_*28del	XP_011537082.1:n.*18_*28del
NM_015665.6:c.*18_*28del MANE Select	NP_056480.1:n.*18_*28del
NM_001173466.2:c.*18_*28del	NP_001166937.1:n.*18_*28del