Canonical Allele Identifier: CA2036909552

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307636_53307641delinsAAGCAC , CM000674.2:g.53307636_53307641delinsAAGCAC	GRCh38
NC_000012.11:g.53701420_53701425delinsAAGCAC , CM000674.1:g.53701420_53701425delinsAAGCAC	GRCh37
NC_000012.10:g.51987687_51987692delinsAAGCAC	NCBI36
NG_016775.1:g.18988_18993delinsGTGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1489_1494delinsGTGCTT MANE Select	ENSP00000209873.4:p.Val497=
ENST00000546562.6:n.2553_2558delinsGTGCTT
ENST00000547238.6:n.2125_2130delinsGTGCTT
ENST00000547520.6:n.1605_1610delinsGTGCTT
ENST00000547757.2:c.*407_*412delinsGTGCTT	ENSP00000448020.2:n.*407_*412delinsGTGCTT
ENST00000548931.6:c.924_929delinsGTGCTT	ENSP00000457518.1:p.Gln308=
ENST00000549450.6:n.1423_1428delinsGTGCTT
ENST00000672797.1:n.1978_1983delinsGTGCTT
ENST00000209873.8:c.1489_1494delinsGTGCTT	ENSP00000209873.4:p.Val497=
ENST00000394384.7:c.1390_1395delinsGTGCTT	ENSP00000377908.3:p.Val464=
ENST00000548931.5:c.924_929delinsGTGCTT	ENSP00000457518.1:p.Gln308=
ENST00000550286.5:c.1117_1122delinsGTGCTT	ENSP00000446885.1:p.Val373=
ENST00000552876.5:n.1832_1837delinsGTGCTT
NM_001173466.1:c.1390_1395delinsGTGCTT	NP_001166937.1:p.Val464=
NM_015665.5:c.1489_1494delinsGTGCTT	NP_056480.1:p.Val497=
XM_006719617.2:c.1504_1509delinsGTGCTT	XP_006719680.1:p.Val502=
XM_011538777.1:c.1546_1551delinsGTGCTT	XP_011537079.1:p.Val516=
XM_011538778.1:c.1531_1536delinsGTGCTT	XP_011537080.1:p.Val511=
XM_011538779.1:c.1447_1452delinsGTGCTT	XP_011537081.1:p.Val483=
XM_011538780.1:c.1432_1437delinsGTGCTT	XP_011537082.1:p.Val478=
XM_011538781.1:c.880_885delinsGTGCTT	XP_011537083.1:p.Val294=
XM_011538778.2:c.1531_1536delinsGTGCTT	XP_011537080.1:p.Val511=
XM_011538780.2:c.1432_1437delinsGTGCTT	XP_011537082.1:p.Val478=
XR_001748875.2:n.1546_1551delinsGTGCTT
NM_015665.6:c.1489_1494delinsGTGCTT MANE Select	NP_056480.1:p.Val497=
NM_001173466.2:c.1390_1395delinsGTGCTT	NP_001166937.1:p.Val464=