Canonical Allele Identifier: CA2036910303

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309158_53309160delinsGAA , CM000674.2:g.53309158_53309160delinsGAA	GRCh38
NC_000012.11:g.53702942_53702944delinsGAA , CM000674.1:g.53702942_53702944delinsGAA	GRCh37
NC_000012.10:g.51989209_51989211delinsGAA	NCBI36
NG_016775.1:g.17469_17471delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.932_934delinsTTC MANE Select	ENSP00000209873.4:p.Phe311=
ENST00000546393.7:n.1777_1779delinsTTC
ENST00000546562.6:n.1996_1998delinsTTC
ENST00000547238.6:n.1568_1570delinsTTC
ENST00000547520.6:n.926_928delinsTTC
ENST00000547757.2:c.-20_-18delinsTTC	ENSP00000448020.2:n.-20_-18delinsTTC
ENST00000548880.2:n.1382_1384delinsTTC
ENST00000548931.6:c.452_454delinsTTC	ENSP00000457518.1:p.Phe151=
ENST00000549450.6:n.866_868delinsTTC
ENST00000552161.6:n.1888_1890delinsTTC
ENST00000672797.1:n.1385_1387delinsTTC
ENST00000672900.1:n.1730_1732delinsTTC
ENST00000209873.8:c.932_934delinsTTC	ENSP00000209873.4:p.Phe311=
ENST00000394384.7:c.833_835delinsTTC	ENSP00000377908.3:p.Phe278=
ENST00000546393.6:n.829_831delinsTTC
ENST00000546572.1:n.384_386delinsTTC
ENST00000547520.5:n.636_638delinsTTC
ENST00000547761.6:n.824_826delinsTTC
ENST00000548931.5:c.452_454delinsTTC	ENSP00000457518.1:p.Phe151=
ENST00000550033.5:n.187_189delinsTTC
ENST00000550286.5:c.560_562delinsTTC	ENSP00000446885.1:p.Phe187=
ENST00000552876.5:n.1275_1277delinsTTC
NM_001173466.1:c.833_835delinsTTC	NP_001166937.1:p.Phe278=
NM_015665.5:c.932_934delinsTTC	NP_056480.1:p.Phe311=
XM_006719617.2:c.947_949delinsTTC	XP_006719680.1:p.Phe316=
XM_006719619.2:c.947_949delinsTTC	XP_006719682.1:p.Phe316=
XM_011538777.1:c.947_949delinsTTC	XP_011537079.1:p.Phe316=
XM_011538778.1:c.932_934delinsTTC	XP_011537080.1:p.Phe311=
XM_011538779.1:c.848_850delinsTTC	XP_011537081.1:p.Phe283=
XM_011538780.1:c.833_835delinsTTC	XP_011537082.1:p.Phe278=
XM_011538781.1:c.281_283delinsTTC	XP_011537083.1:p.Phe94=
XM_011538778.2:c.932_934delinsTTC	XP_011537080.1:p.Phe311=
XM_011538780.2:c.833_835delinsTTC	XP_011537082.1:p.Phe278=
XR_001748875.2:n.953_955delinsTTC
NM_015665.6:c.932_934delinsTTC MANE Select	NP_056480.1:p.Phe311=
NM_001173466.2:c.833_835delinsTTC	NP_001166937.1:p.Phe278=