Canonical Allele Identifier: CA2036909786

Gene: AAAS

Linked Data

• dbSNP Id: rs1944321667

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308106_53308107insCTCAC , CM000674.2:g.53308106_53308107insCTCAC	GRCh38
NC_000012.11:g.53701890_53701891insCTCAC , CM000674.1:g.53701890_53701891insCTCAC	GRCh37
NC_000012.10:g.51988157_51988158insCTCAC	NCBI36
NG_016775.1:g.18522_18523insGTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1276_1277insGTGAG MANE Select	ENSP00000209873.4:p.Pro426ArgfsTer?
ENST00000546562.6:n.2340_2341insGTGAG
ENST00000547238.6:n.1912_1913insGTGAG
ENST00000547520.6:n.1270_1271insGTGAG
ENST00000547757.2:c.325_326insGTGAG	ENSP00000448020.2:p.Pro109ArgfsTer28
ENST00000548880.2:n.1726_1727insGTGAG
ENST00000548931.6:c.796_797insGTGAG	ENSP00000457518.1:p.Pro266ArgfsTer?
ENST00000549450.6:n.1210_1211insGTGAG
ENST00000552161.6:n.2232_2233insGTGAG
ENST00000672797.1:n.1765_1766insGTGAG
ENST00000672900.1:n.2366_2367insGTGAG
ENST00000209873.8:c.1276_1277insGTGAG	ENSP00000209873.4:p.Pro426ArgfsTer?
ENST00000394384.7:c.1177_1178insGTGAG	ENSP00000377908.3:p.Pro393ArgfsTer?
ENST00000548931.5:c.796_797insGTGAG	ENSP00000457518.1:p.Pro266ArgfsTer?
ENST00000550033.5:n.531_532insGTGAG
ENST00000550286.5:c.904_905insGTGAG	ENSP00000446885.1:p.Pro302ArgfsTer?
ENST00000552876.5:n.1619_1620insGTGAG
NM_001173466.1:c.1177_1178insGTGAG	NP_001166937.1:p.Pro393ArgfsTer?
NM_015665.5:c.1276_1277insGTGAG	NP_056480.1:p.Pro426ArgfsTer?
XM_006719617.2:c.1291_1292insGTGAG	XP_006719680.1:p.Pro431ArgfsTer?
XM_011538777.1:c.1291_1292insGTGAG	XP_011537079.1:p.Pro431ArgfsTer?
XM_011538778.1:c.1276_1277insGTGAG	XP_011537080.1:p.Pro426ArgfsTer?
XM_011538779.1:c.1192_1193insGTGAG	XP_011537081.1:p.Pro398ArgfsTer?
XM_011538780.1:c.1177_1178insGTGAG	XP_011537082.1:p.Pro393ArgfsTer?
XM_011538781.1:c.625_626insGTGAG	XP_011537083.1:p.Pro209ArgfsTer?
XM_011538778.2:c.1276_1277insGTGAG	XP_011537080.1:p.Pro426ArgfsTer?
XM_011538780.2:c.1177_1178insGTGAG	XP_011537082.1:p.Pro393ArgfsTer?
XR_001748875.2:n.1333_1334insGTGAG
NM_015665.6:c.1276_1277insGTGAG MANE Select	NP_056480.1:p.Pro426ArgfsTer?
NM_001173466.2:c.1177_1178insGTGAG	NP_001166937.1:p.Pro393ArgfsTer?