Canonical Allele Identifier: CA2036909547

Gene: AAAS

Linked Data

• dbSNP Id: rs1944308718

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307631_53307652del , CM000674.2:g.53307631_53307652del	GRCh38
NC_000012.11:g.53701415_53701436del , CM000674.1:g.53701415_53701436del	GRCh37
NC_000012.10:g.51987682_51987703del	NCBI36
NG_016775.1:g.18978_18999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1479_1500del MANE Select	ENSP00000209873.4:p.Phe494ProfsTer?
ENST00000546562.6:n.2543_2564del
ENST00000547238.6:n.2115_2136del
ENST00000547520.6:n.1595_1616del
ENST00000547757.2:c.*397_*418del	ENSP00000448020.2:n.*397_*418del
ENST00000548931.6:c.914_935del	ENSP00000457518.1:p.Val305GlyfsTer14
ENST00000549450.6:n.1413_1434del
ENST00000672797.1:n.1968_1989del
ENST00000209873.8:c.1479_1500del	ENSP00000209873.4:p.Phe494ProfsTer?
ENST00000394384.7:c.1380_1401del	ENSP00000377908.3:p.Phe461ProfsTer?
ENST00000548931.5:c.914_935del	ENSP00000457518.1:p.Val305GlyfsTer14
ENST00000550286.5:c.1107_1128del	ENSP00000446885.1:p.Phe370ProfsTer?
ENST00000552876.5:n.1822_1843del
NM_001173466.1:c.1380_1401del	NP_001166937.1:p.Phe461ProfsTer?
NM_015665.5:c.1479_1500del	NP_056480.1:p.Phe494ProfsTer?
XM_006719617.2:c.1494_1515del	XP_006719680.1:p.Phe499ProfsTer?
XM_011538777.1:c.1536_1557del	XP_011537079.1:p.Phe513ProfsTer?
XM_011538778.1:c.1521_1542del	XP_011537080.1:p.Phe508ProfsTer?
XM_011538779.1:c.1437_1458del	XP_011537081.1:p.Phe480ProfsTer?
XM_011538780.1:c.1422_1443del	XP_011537082.1:p.Phe475ProfsTer?
XM_011538781.1:c.870_891del	XP_011537083.1:p.Phe291ProfsTer?
XM_011538778.2:c.1521_1542del	XP_011537080.1:p.Phe508ProfsTer?
XM_011538780.2:c.1422_1443del	XP_011537082.1:p.Phe475ProfsTer?
XR_001748875.2:n.1536_1557del
NM_015665.6:c.1479_1500del MANE Select	NP_056480.1:p.Phe494ProfsTer?
NM_001173466.2:c.1380_1401del	NP_001166937.1:p.Phe461ProfsTer?