Canonical Allele Identifier: CA2036909567

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307660_53307662delinsCTG , CM000674.2:g.53307660_53307662delinsCTG	GRCh38
NC_000012.11:g.53701444_53701446delinsCTG , CM000674.1:g.53701444_53701446delinsCTG	GRCh37
NC_000012.10:g.51987711_51987713delinsCTG	NCBI36
NG_016775.1:g.18967_18969delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1468_1470delinsCAG MANE Select	ENSP00000209873.4:p.Gln490=
ENST00000546562.6:n.2532_2534delinsCAG
ENST00000547238.6:n.2104_2106delinsCAG
ENST00000547520.6:n.1584_1586delinsCAG
ENST00000547757.2:c.*386_*388delinsCAG	ENSP00000448020.2:n.*386_*388delinsCAG
ENST00000548880.2:n.1918_1920delinsCAG
ENST00000548931.6:c.903_905delinsCAG	ENSP00000457518.1:p.Pro301=
ENST00000549450.6:n.1402_1404delinsCAG
ENST00000552161.6:n.2546_2548delinsCAG
ENST00000672797.1:n.1957_1959delinsCAG
ENST00000209873.8:c.1468_1470delinsCAG	ENSP00000209873.4:p.Gln490=
ENST00000394384.7:c.1369_1371delinsCAG	ENSP00000377908.3:p.Gln457=
ENST00000548931.5:c.903_905delinsCAG	ENSP00000457518.1:p.Pro301=
ENST00000550286.5:c.1096_1098delinsCAG	ENSP00000446885.1:p.Gln366=
ENST00000552876.5:n.1811_1813delinsCAG
NM_001173466.1:c.1369_1371delinsCAG	NP_001166937.1:p.Gln457=
NM_015665.5:c.1468_1470delinsCAG	NP_056480.1:p.Gln490=
XM_006719617.2:c.1483_1485delinsCAG	XP_006719680.1:p.Gln495=
XM_011538777.1:c.1525_1527delinsCAG	XP_011537079.1:p.Gln509=
XM_011538778.1:c.1510_1512delinsCAG	XP_011537080.1:p.Gln504=
XM_011538779.1:c.1426_1428delinsCAG	XP_011537081.1:p.Gln476=
XM_011538780.1:c.1411_1413delinsCAG	XP_011537082.1:p.Gln471=
XM_011538781.1:c.859_861delinsCAG	XP_011537083.1:p.Gln287=
XM_011538778.2:c.1510_1512delinsCAG	XP_011537080.1:p.Gln504=
XM_011538780.2:c.1411_1413delinsCAG	XP_011537082.1:p.Gln471=
XR_001748875.2:n.1525_1527delinsCAG
NM_015665.6:c.1468_1470delinsCAG MANE Select	NP_056480.1:p.Gln490=
NM_001173466.2:c.1369_1371delinsCAG	NP_001166937.1:p.Gln457=