Canonical Allele Identifier: CA2619037683

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308823-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308824_53308825del , CM000674.2:g.53308824_53308825del	GRCh38
NC_000012.11:g.53702608_53702609del , CM000674.1:g.53702608_53702609del	GRCh37
NC_000012.10:g.51988875_51988876del	NCBI36
NG_016775.1:g.17804_17805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997-10_997-9del MANE Select	ENSP00000209873.4:n.997-10_997-9del
ENST00000546393.7:n.1842-10_1842-9del
ENST00000546562.6:n.2061-10_2061-9del
ENST00000547238.6:n.1633-10_1633-9del
ENST00000547520.6:n.991-10_991-9del
ENST00000547757.2:c.46-10_46-9del	ENSP00000448020.2:n.46-10_46-9del
ENST00000548880.2:n.1447-10_1447-9del
ENST00000548931.6:c.517-10_517-9del	ENSP00000457518.1:n.517-10_517-9del
ENST00000549450.6:n.931-10_931-9del
ENST00000552161.6:n.1953-10_1953-9del
ENST00000672797.1:n.1476_1477del
ENST00000672900.1:n.1929_1930del
ENST00000209873.8:c.997-10_997-9del	ENSP00000209873.4:n.997-10_997-9del
ENST00000394384.7:c.898-10_898-9del	ENSP00000377908.3:n.898-10_898-9del
ENST00000547520.5:n.701-10_701-9del
ENST00000548931.5:c.517-10_517-9del	ENSP00000457518.1:n.517-10_517-9del
ENST00000550033.5:n.252-10_252-9del
ENST00000550286.5:c.625-10_625-9del	ENSP00000446885.1:n.625-10_625-9del
ENST00000552876.5:n.1340-10_1340-9del
NM_001173466.1:c.898-10_898-9del	NP_001166937.1:n.898-10_898-9del
NM_015665.5:c.997-10_997-9del	NP_056480.1:n.997-10_997-9del
XM_006719617.2:c.1012-10_1012-9del	XP_006719680.1:n.1012-10_1012-9del
XM_006719619.2:c.1038_1039del	XP_006719682.1:p.Ter347ThrextTer?
XM_011538777.1:c.1012-10_1012-9del	XP_011537079.1:n.1012-10_1012-9del
XM_011538778.1:c.997-10_997-9del	XP_011537080.1:n.997-10_997-9del
XM_011538779.1:c.913-10_913-9del	XP_011537081.1:n.913-10_913-9del
XM_011538780.1:c.898-10_898-9del	XP_011537082.1:n.898-10_898-9del
XM_011538781.1:c.346-10_346-9del	XP_011537083.1:n.346-10_346-9del
XM_011538778.2:c.997-10_997-9del	XP_011537080.1:n.997-10_997-9del
XM_011538780.2:c.898-10_898-9del	XP_011537082.1:n.898-10_898-9del
XR_001748875.2:n.1044_1045del
NM_015665.6:c.997-10_997-9del MANE Select	NP_056480.1:n.997-10_997-9del
NM_001173466.2:c.898-10_898-9del	NP_001166937.1:n.898-10_898-9del