Canonical Allele Identifier: CA2726187388

Gene: AAAS

Linked Data

• dbSNP Id: rs2121086576

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308818_53308819insACAGCGCCCTGATAGAGTA , CM000674.2:g.53308818_53308819insACAGCGCCCTGATAGAGTA	GRCh38
NC_000012.11:g.53702602_53702603insACAGCGCCCTGATAGAGTA , CM000674.1:g.53702602_53702603insACAGCGCCCTGATAGAGTA	GRCh37
NC_000012.10:g.51988869_51988870insACAGCGCCCTGATAGAGTA	NCBI36
NG_016775.1:g.17810_17811insTACTCTATCAGGGCGCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997-4_997-3insTACTCTATCAGGGCGCTGT MANE Select	ENSP00000209873.4:n.997-4_997-3insTACTCTATCAGGGCGCTGT
ENST00000546393.7:n.1842-4_1842-3insTACTCTATCAGGGCGCTGT
ENST00000546562.6:n.2061-4_2061-3insTACTCTATCAGGGCGCTGT
ENST00000547238.6:n.1633-4_1633-3insTACTCTATCAGGGCGCTGT
ENST00000547520.6:n.991-4_991-3insTACTCTATCAGGGCGCTGT
ENST00000547757.2:c.46-4_46-3insTACTCTATCAGGGCGCTGT	ENSP00000448020.2:n.46-4_46-3insTACTCTATCAGGGCGCTGT
ENST00000548880.2:n.1447-4_1447-3insTACTCTATCAGGGCGCTGT
ENST00000548931.6:c.517-4_517-3insTACTCTATCAGGGCGCTGT	ENSP00000457518.1:n.517-4_517-3insTACTCTATCAGGGCGCTGT
ENST00000549450.6:n.931-4_931-3insTACTCTATCAGGGCGCTGT
ENST00000552161.6:n.1953-4_1953-3insTACTCTATCAGGGCGCTGT
ENST00000672797.1:n.1482_1483insTACTCTATCAGGGCGCTGT
ENST00000672900.1:n.1935_1936insTACTCTATCAGGGCGCTGT
ENST00000209873.8:c.997-4_997-3insTACTCTATCAGGGCGCTGT	ENSP00000209873.4:n.997-4_997-3insTACTCTATCAGGGCGCTGT
ENST00000394384.7:c.898-4_898-3insTACTCTATCAGGGCGCTGT	ENSP00000377908.3:n.898-4_898-3insTACTCTATCAGGGCGCTGT
ENST00000547520.5:n.701-4_701-3insTACTCTATCAGGGCGCTGT
ENST00000548931.5:c.517-4_517-3insTACTCTATCAGGGCGCTGT	ENSP00000457518.1:n.517-4_517-3insTACTCTATCAGGGCGCTGT
ENST00000550033.5:n.252-4_252-3insTACTCTATCAGGGCGCTGT
ENST00000550286.5:c.625-4_625-3insTACTCTATCAGGGCGCTGT	ENSP00000446885.1:n.625-4_625-3insTACTCTATCAGGGCGCTGT
ENST00000552876.5:n.1340-4_1340-3insTACTCTATCAGGGCGCTGT
NM_001173466.1:c.898-4_898-3insTACTCTATCAGGGCGCTGT	NP_001166937.1:n.898-4_898-3insTACTCTATCAGGGCGCTGT
NM_015665.5:c.997-4_997-3insTACTCTATCAGGGCGCTGT	NP_056480.1:n.997-4_997-3insTACTCTATCAGGGCGCTGT
XM_006719617.2:c.1012-4_1012-3insTACTCTATCAGGGCGCTGT	XP_006719680.1:n.1012-4_1012-3insTACTCTATCAGGGCGCTGT
XM_006719619.2:c.*3_*4insTACTCTATCAGGGCGCTGT	XP_006719682.1:n.*3_*4insTACTCTATCAGGGCGCTGT
XM_011538777.1:c.1012-4_1012-3insTACTCTATCAGGGCGCTGT	XP_011537079.1:n.1012-4_1012-3insTACTCTATCAGGGCGCTGT
XM_011538778.1:c.997-4_997-3insTACTCTATCAGGGCGCTGT	XP_011537080.1:n.997-4_997-3insTACTCTATCAGGGCGCTGT
XM_011538779.1:c.913-4_913-3insTACTCTATCAGGGCGCTGT	XP_011537081.1:n.913-4_913-3insTACTCTATCAGGGCGCTGT
XM_011538780.1:c.898-4_898-3insTACTCTATCAGGGCGCTGT	XP_011537082.1:n.898-4_898-3insTACTCTATCAGGGCGCTGT
XM_011538781.1:c.346-4_346-3insTACTCTATCAGGGCGCTGT	XP_011537083.1:n.346-4_346-3insTACTCTATCAGGGCGCTGT
XM_011538778.2:c.997-4_997-3insTACTCTATCAGGGCGCTGT	XP_011537080.1:n.997-4_997-3insTACTCTATCAGGGCGCTGT
XM_011538780.2:c.898-4_898-3insTACTCTATCAGGGCGCTGT	XP_011537082.1:n.898-4_898-3insTACTCTATCAGGGCGCTGT
XR_001748875.2:n.1050_1051insTACTCTATCAGGGCGCTGT
NM_015665.6:c.997-4_997-3insTACTCTATCAGGGCGCTGT MANE Select	NP_056480.1:n.997-4_997-3insTACTCTATCAGGGCGCTGT
NM_001173466.2:c.898-4_898-3insTACTCTATCAGGGCGCTGT	NP_001166937.1:n.898-4_898-3insTACTCTATCAGGGCGCTGT