Canonical Allele Identifier: CA2036909557

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307647_53307648delinsTA , CM000674.2:g.53307647_53307648delinsTA	GRCh38
NC_000012.11:g.53701431_53701432delinsTA , CM000674.1:g.53701431_53701432delinsTA	GRCh37
NC_000012.10:g.51987698_51987699delinsTA	NCBI36
NG_016775.1:g.18981_18982delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1482_1483delinsTA MANE Select	ENSP00000209873.4:p.Phe494=
ENST00000546562.6:n.2546_2547delinsTA
ENST00000547238.6:n.2118_2119delinsTA
ENST00000547520.6:n.1598_1599delinsTA
ENST00000547757.2:c.*400_*401delinsTA	ENSP00000448020.2:n.*400_*401delinsTA
ENST00000548880.2:n.1932_1933delinsTA
ENST00000548931.6:c.917_918delinsTA	ENSP00000457518.1:p.Leu306=
ENST00000549450.6:n.1416_1417delinsTA
ENST00000552161.6:n.2560_2561delinsTA
ENST00000672797.1:n.1971_1972delinsTA
ENST00000209873.8:c.1482_1483delinsTA	ENSP00000209873.4:p.Phe494=
ENST00000394384.7:c.1383_1384delinsTA	ENSP00000377908.3:p.Phe461=
ENST00000548931.5:c.917_918delinsTA	ENSP00000457518.1:p.Leu306=
ENST00000550286.5:c.1110_1111delinsTA	ENSP00000446885.1:p.Phe370=
ENST00000552876.5:n.1825_1826delinsTA
NM_001173466.1:c.1383_1384delinsTA	NP_001166937.1:p.Phe461=
NM_015665.5:c.1482_1483delinsTA	NP_056480.1:p.Phe494=
XM_006719617.2:c.1497_1498delinsTA	XP_006719680.1:p.Phe499=
XM_011538777.1:c.1539_1540delinsTA	XP_011537079.1:p.Phe513=
XM_011538778.1:c.1524_1525delinsTA	XP_011537080.1:p.Phe508=
XM_011538779.1:c.1440_1441delinsTA	XP_011537081.1:p.Phe480=
XM_011538780.1:c.1425_1426delinsTA	XP_011537082.1:p.Phe475=
XM_011538781.1:c.873_874delinsTA	XP_011537083.1:p.Phe291=
XM_011538778.2:c.1524_1525delinsTA	XP_011537080.1:p.Phe508=
XM_011538780.2:c.1425_1426delinsTA	XP_011537082.1:p.Phe475=
XR_001748875.2:n.1539_1540delinsTA
NM_015665.6:c.1482_1483delinsTA MANE Select	NP_056480.1:p.Phe494=
NM_001173466.2:c.1383_1384delinsTA	NP_001166937.1:p.Phe461=