Canonical Allele Identifier: CA2619037148

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307671-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307673_53307674del , CM000674.2:g.53307673_53307674del	GRCh38
NC_000012.11:g.53701457_53701458del , CM000674.1:g.53701457_53701458del	GRCh37
NC_000012.10:g.51987724_51987725del	NCBI36
NG_016775.1:g.18956_18957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1457_1458del MANE Select	ENSP00000209873.4:p.Phe486CysfsTer9
ENST00000546562.6:n.2521_2522del
ENST00000547238.6:n.2093_2094del
ENST00000547520.6:n.1573_1574del
ENST00000547757.2:c.*375_*376del	ENSP00000448020.2:n.*375_*376del
ENST00000548880.2:n.1907_1908del
ENST00000548931.6:c.892_893del	ENSP00000457518.1:p.Leu298ValfsTer?
ENST00000549450.6:n.1391_1392del
ENST00000552161.6:n.2535_2536del
ENST00000672797.1:n.1946_1947del
ENST00000209873.8:c.1457_1458del	ENSP00000209873.4:p.Phe486CysfsTer9
ENST00000394384.7:c.1358_1359del	ENSP00000377908.3:p.Phe453CysfsTer9
ENST00000548931.5:c.892_893del	ENSP00000457518.1:p.Leu298ValfsTer?
ENST00000550286.5:c.1085_1086del	ENSP00000446885.1:p.Phe362CysfsTer9
ENST00000552876.5:n.1800_1801del
NM_001173466.1:c.1358_1359del	NP_001166937.1:p.Phe453CysfsTer9
NM_015665.5:c.1457_1458del	NP_056480.1:p.Phe486CysfsTer9
XM_006719617.2:c.1472_1473del	XP_006719680.1:p.Phe491CysfsTer9
XM_011538777.1:c.1514_1515del	XP_011537079.1:p.Phe505CysfsTer9
XM_011538778.1:c.1499_1500del	XP_011537080.1:p.Phe500CysfsTer9
XM_011538779.1:c.1415_1416del	XP_011537081.1:p.Phe472CysfsTer9
XM_011538780.1:c.1400_1401del	XP_011537082.1:p.Phe467CysfsTer9
XM_011538781.1:c.848_849del	XP_011537083.1:p.Phe283CysfsTer9
XM_011538778.2:c.1499_1500del	XP_011537080.1:p.Phe500CysfsTer9
XM_011538780.2:c.1400_1401del	XP_011537082.1:p.Phe467CysfsTer9
XR_001748875.2:n.1514_1515del
NM_015665.6:c.1457_1458del MANE Select	NP_056480.1:p.Phe486CysfsTer9
NM_001173466.2:c.1358_1359del	NP_001166937.1:p.Phe453CysfsTer9