Canonical Allele Identifier: CA2619037692

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308845-GGTATGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308846_53308851del , CM000674.2:g.53308846_53308851del	GRCh38
NC_000012.11:g.53702630_53702635del , CM000674.1:g.53702630_53702635del	GRCh37
NC_000012.10:g.51988897_51988902del	NCBI36
NG_016775.1:g.17778_17783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997-36_997-31del MANE Select	ENSP00000209873.4:n.997-36_997-31del
ENST00000546393.7:n.1842-36_1842-31del
ENST00000546562.6:n.2061-36_2061-31del
ENST00000547238.6:n.1633-36_1633-31del
ENST00000547520.6:n.991-36_991-31del
ENST00000547757.2:c.46-36_46-31del	ENSP00000448020.2:n.46-36_46-31del
ENST00000548880.2:n.1447-36_1447-31del
ENST00000548931.6:c.517-36_517-31del	ENSP00000457518.1:n.517-36_517-31del
ENST00000549450.6:n.931-36_931-31del
ENST00000552161.6:n.1953-36_1953-31del
ENST00000672797.1:n.1450_1455del
ENST00000672900.1:n.1903_1908del
ENST00000209873.8:c.997-36_997-31del	ENSP00000209873.4:n.997-36_997-31del
ENST00000394384.7:c.898-36_898-31del	ENSP00000377908.3:n.898-36_898-31del
ENST00000547520.5:n.701-36_701-31del
ENST00000548931.5:c.517-36_517-31del	ENSP00000457518.1:n.517-36_517-31del
ENST00000550033.5:n.252-36_252-31del
ENST00000550286.5:c.625-36_625-31del	ENSP00000446885.1:n.625-36_625-31del
ENST00000552876.5:n.1340-36_1340-31del
NM_001173466.1:c.898-36_898-31del	NP_001166937.1:n.898-36_898-31del
NM_015665.5:c.997-36_997-31del	NP_056480.1:n.997-36_997-31del
XM_006719617.2:c.1012-36_1012-31del	XP_006719680.1:n.1012-36_1012-31del
XM_006719619.2:c.1012_1017del	XP_006719682.1:p.Thr338_Tyr339del
XM_011538777.1:c.1012-36_1012-31del	XP_011537079.1:n.1012-36_1012-31del
XM_011538778.1:c.997-36_997-31del	XP_011537080.1:n.997-36_997-31del
XM_011538779.1:c.913-36_913-31del	XP_011537081.1:n.913-36_913-31del
XM_011538780.1:c.898-36_898-31del	XP_011537082.1:n.898-36_898-31del
XM_011538781.1:c.346-36_346-31del	XP_011537083.1:n.346-36_346-31del
XM_011538778.2:c.997-36_997-31del	XP_011537080.1:n.997-36_997-31del
XM_011538780.2:c.898-36_898-31del	XP_011537082.1:n.898-36_898-31del
XR_001748875.2:n.1018_1023del
NM_015665.6:c.997-36_997-31del MANE Select	NP_056480.1:n.997-36_997-31del
NM_001173466.2:c.898-36_898-31del	NP_001166937.1:n.898-36_898-31del