Canonical Allele Identifier: CA2036909575

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307677_53307678delinsAC , CM000674.2:g.53307677_53307678delinsAC	GRCh38
NC_000012.11:g.53701461_53701462delinsAC , CM000674.1:g.53701461_53701462delinsAC	GRCh37
NC_000012.10:g.51987728_51987729delinsAC	NCBI36
NG_016775.1:g.18951_18952delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1452_1453delinsGT MANE Select	ENSP00000209873.4:p.Leu484=
ENST00000546562.6:n.2516_2517delinsGT
ENST00000547238.6:n.2088_2089delinsGT
ENST00000547520.6:n.1568_1569delinsGT
ENST00000547757.2:c.*370_*371delinsGT	ENSP00000448020.2:n.*370_*371delinsGT
ENST00000548880.2:n.1902_1903delinsGT
ENST00000548931.6:c.887_888delinsGT	ENSP00000457518.1:p.Cys296=
ENST00000549450.6:n.1386_1387delinsGT
ENST00000552161.6:n.2530_2531delinsGT
ENST00000672797.1:n.1941_1942delinsGT
ENST00000209873.8:c.1452_1453delinsGT	ENSP00000209873.4:p.Leu484=
ENST00000394384.7:c.1353_1354delinsGT	ENSP00000377908.3:p.Leu451=
ENST00000548931.5:c.887_888delinsGT	ENSP00000457518.1:p.Cys296=
ENST00000550286.5:c.1080_1081delinsGT	ENSP00000446885.1:p.Leu360=
ENST00000552876.5:n.1795_1796delinsGT
NM_001173466.1:c.1353_1354delinsGT	NP_001166937.1:p.Leu451=
NM_015665.5:c.1452_1453delinsGT	NP_056480.1:p.Leu484=
XM_006719617.2:c.1467_1468delinsGT	XP_006719680.1:p.Leu489=
XM_011538777.1:c.1509_1510delinsGT	XP_011537079.1:p.Leu503=
XM_011538778.1:c.1494_1495delinsGT	XP_011537080.1:p.Leu498=
XM_011538779.1:c.1410_1411delinsGT	XP_011537081.1:p.Leu470=
XM_011538780.1:c.1395_1396delinsGT	XP_011537082.1:p.Leu465=
XM_011538781.1:c.843_844delinsGT	XP_011537083.1:p.Leu281=
XM_011538778.2:c.1494_1495delinsGT	XP_011537080.1:p.Leu498=
XM_011538780.2:c.1395_1396delinsGT	XP_011537082.1:p.Leu465=
XR_001748875.2:n.1509_1510delinsGT
NM_015665.6:c.1452_1453delinsGT MANE Select	NP_056480.1:p.Leu484=
NM_001173466.2:c.1353_1354delinsGT	NP_001166937.1:p.Leu451=