Canonical Allele Identifier: CA2575173817

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307604_53307625del , CM000674.2:g.53307604_53307625del	GRCh38
NC_000012.11:g.53701388_53701409del , CM000674.1:g.53701388_53701409del	GRCh37
NC_000012.10:g.51987655_51987676del	NCBI36
NG_016775.1:g.19007_19028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1508_1529del MANE Select	ENSP00000209873.4:p.Glu503AlafsTer?
ENST00000546562.6:n.2572_2593del
ENST00000547238.6:n.2144_2165del
ENST00000547520.6:n.1624_1645del
ENST00000547757.2:c.*426_*447del	ENSP00000448020.2:n.*426_*447del
ENST00000548931.6:c.943_964del	ENSP00000457518.1:p.Asn315LeufsTer4
ENST00000549450.6:n.1442_1463del
ENST00000672797.1:n.1997_2018del
ENST00000209873.8:c.1508_1529del	ENSP00000209873.4:p.Glu503AlafsTer?
ENST00000394384.7:c.1409_1430del	ENSP00000377908.3:p.Glu470AlafsTer?
ENST00000548931.5:c.943_964del	ENSP00000457518.1:p.Asn315LeufsTer4
ENST00000550286.5:c.1136_1157del	ENSP00000446885.1:p.Glu379AlafsTer?
ENST00000552876.5:n.1851_1872del
NM_001173466.1:c.1409_1430del	NP_001166937.1:p.Glu470AlafsTer?
NM_015665.5:c.1508_1529del	NP_056480.1:p.Glu503AlafsTer?
XM_006719617.2:c.1523_1544del	XP_006719680.1:p.Glu508AlafsTer?
XM_011538777.1:c.1565_1586del	XP_011537079.1:p.Glu522AlafsTer?
XM_011538778.1:c.1550_1571del	XP_011537080.1:p.Glu517AlafsTer?
XM_011538779.1:c.1466_1487del	XP_011537081.1:p.Glu489AlafsTer?
XM_011538780.1:c.1451_1472del	XP_011537082.1:p.Glu484AlafsTer?
XM_011538781.1:c.899_920del	XP_011537083.1:p.Glu300AlafsTer?
XM_011538778.2:c.1550_1571del	XP_011537080.1:p.Glu517AlafsTer?
XM_011538780.2:c.1451_1472del	XP_011537082.1:p.Glu484AlafsTer?
XR_001748875.2:n.1565_1586del
NM_015665.6:c.1508_1529del MANE Select	NP_056480.1:p.Glu503AlafsTer?
NM_001173466.2:c.1409_1430del	NP_001166937.1:p.Glu470AlafsTer?