Canonical Allele Identifier: CA2840888881

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309095_53309100del , CM000674.2:g.53309095_53309100del	GRCh38
NC_000012.11:g.53702879_53702884del , CM000674.1:g.53702879_53702884del	GRCh37
NC_000012.10:g.51989146_51989151del	NCBI36
NG_016775.1:g.17529_17534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.935+57_935+62del MANE Select	ENSP00000209873.4:n.935+57_935+62del
ENST00000546393.7:n.1780+57_1780+62del
ENST00000546562.6:n.1999+57_1999+62del
ENST00000547238.6:n.1571+57_1571+62del
ENST00000547520.6:n.929+57_929+62del
ENST00000547757.2:c.-17+57_-17+62del	ENSP00000448020.2:n.-17+57_-17+62del
ENST00000548880.2:n.1385+57_1385+62del
ENST00000548931.6:c.455+57_455+62del	ENSP00000457518.1:n.455+57_455+62del
ENST00000549450.6:n.869+57_869+62del
ENST00000552161.6:n.1891+57_1891+62del
ENST00000672797.1:n.1388+57_1388+62del
ENST00000672900.1:n.1733+57_1733+62del
ENST00000209873.8:c.935+57_935+62del	ENSP00000209873.4:n.935+57_935+62del
ENST00000394384.7:c.836+57_836+62del	ENSP00000377908.3:n.836+57_836+62del
ENST00000546572.1:n.444_449del
ENST00000547520.5:n.639+57_639+62del
ENST00000548931.5:c.455+57_455+62del	ENSP00000457518.1:n.455+57_455+62del
ENST00000550033.5:n.190+57_190+62del
ENST00000550286.5:c.563+57_563+62del	ENSP00000446885.1:n.563+57_563+62del
ENST00000552876.5:n.1278+57_1278+62del
NM_001173466.1:c.836+57_836+62del	NP_001166937.1:n.836+57_836+62del
NM_015665.5:c.935+57_935+62del	NP_056480.1:n.935+57_935+62del
XM_006719617.2:c.950+57_950+62del	XP_006719680.1:n.950+57_950+62del
XM_006719619.2:c.950+57_950+62del	XP_006719682.1:n.950+57_950+62del
XM_011538777.1:c.950+57_950+62del	XP_011537079.1:n.950+57_950+62del
XM_011538778.1:c.935+57_935+62del	XP_011537080.1:n.935+57_935+62del
XM_011538779.1:c.851+57_851+62del	XP_011537081.1:n.851+57_851+62del
XM_011538780.1:c.836+57_836+62del	XP_011537082.1:n.836+57_836+62del
XM_011538781.1:c.284+57_284+62del	XP_011537083.1:n.284+57_284+62del
XM_011538778.2:c.935+57_935+62del	XP_011537080.1:n.935+57_935+62del
XM_011538780.2:c.836+57_836+62del	XP_011537082.1:n.836+57_836+62del
XR_001748875.2:n.956+57_956+62del
NM_015665.6:c.935+57_935+62del MANE Select	NP_056480.1:n.935+57_935+62del
NM_001173466.2:c.836+57_836+62del	NP_001166937.1:n.836+57_836+62del