Canonical Allele Identifier: CA2619037001

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307577-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307580_53307581del , CM000674.2:g.53307580_53307581del	GRCh38
NC_000012.11:g.53701364_53701365del , CM000674.1:g.53701364_53701365del	GRCh37
NC_000012.10:g.51987631_51987632del	NCBI36
NG_016775.1:g.19050_19051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1551_1552del MANE Select	ENSP00000209873.4:p.Phe518TyrfsTer2
ENST00000546562.6:n.2615_2616del
ENST00000547238.6:n.2187_2188del
ENST00000547520.6:n.1667_1668del
ENST00000547757.2:c.*469_*470del	ENSP00000448020.2:n.*469_*470del
ENST00000548931.6:c.986_987del	ENSP00000457518.1:p.Ser329PhefsTer30
ENST00000549450.6:n.1485_1486del
ENST00000672797.1:n.2040_2041del
ENST00000209873.8:c.1551_1552del	ENSP00000209873.4:p.Phe518TyrfsTer2
ENST00000394384.7:c.1452_1453del	ENSP00000377908.3:p.Phe485TyrfsTer2
ENST00000548931.5:c.986_987del	ENSP00000457518.1:p.Ser329PhefsTer?
ENST00000550286.5:c.1179_1180del	ENSP00000446885.1:p.Phe394TyrfsTer2
ENST00000552876.5:n.1894_1895del
NM_001173466.1:c.1452_1453del	NP_001166937.1:p.Phe485TyrfsTer2
NM_015665.5:c.1551_1552del	NP_056480.1:p.Phe518TyrfsTer2
XM_006719617.2:c.1566_1567del	XP_006719680.1:p.Phe523TyrfsTer2
XM_011538777.1:c.1608_1609del	XP_011537079.1:p.Phe537TyrfsTer2
XM_011538778.1:c.1593_1594del	XP_011537080.1:p.Phe532TyrfsTer2
XM_011538779.1:c.1509_1510del	XP_011537081.1:p.Phe504TyrfsTer2
XM_011538780.1:c.1494_1495del	XP_011537082.1:p.Phe499TyrfsTer2
XM_011538781.1:c.942_943del	XP_011537083.1:p.Phe315TyrfsTer2
XM_011538778.2:c.1593_1594del	XP_011537080.1:p.Phe532TyrfsTer2
XM_011538780.2:c.1494_1495del	XP_011537082.1:p.Phe499TyrfsTer2
XR_001748875.2:n.1608_1609del
NM_015665.6:c.1551_1552del MANE Select	NP_056480.1:p.Phe518TyrfsTer2
NM_001173466.2:c.1452_1453del	NP_001166937.1:p.Phe485TyrfsTer2