Canonical Allele Identifier: CA2619037677

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308816-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308817_53308818del , CM000674.2:g.53308817_53308818del	GRCh38
NC_000012.11:g.53702601_53702602del , CM000674.1:g.53702601_53702602del	GRCh37
NC_000012.10:g.51988868_51988869del	NCBI36
NG_016775.1:g.17811_17812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997-3_997-2del MANE Select	ENSP00000209873.4:n.997-3_997-2del
ENST00000546393.7:n.1842-3_1842-2del
ENST00000546562.6:n.2061-3_2061-2del
ENST00000547238.6:n.1633-3_1633-2del
ENST00000547520.6:n.991-3_991-2del
ENST00000547757.2:c.46-3_46-2del	ENSP00000448020.2:n.46-3_46-2del
ENST00000548880.2:n.1447-3_1447-2del
ENST00000548931.6:c.517-3_517-2del	ENSP00000457518.1:n.517-3_517-2del
ENST00000549450.6:n.931-3_931-2del
ENST00000552161.6:n.1953-3_1953-2del
ENST00000672797.1:n.1483_1484del
ENST00000672900.1:n.1936_1937del
ENST00000209873.8:c.997-3_997-2del	ENSP00000209873.4:n.997-3_997-2del
ENST00000394384.7:c.898-3_898-2del	ENSP00000377908.3:n.898-3_898-2del
ENST00000547520.5:n.701-3_701-2del
ENST00000548931.5:c.517-3_517-2del	ENSP00000457518.1:n.517-3_517-2del
ENST00000550033.5:n.252-3_252-2del
ENST00000550286.5:c.625-3_625-2del	ENSP00000446885.1:n.625-3_625-2del
ENST00000552876.5:n.1340-3_1340-2del
NM_001173466.1:c.898-3_898-2del	NP_001166937.1:n.898-3_898-2del
NM_015665.5:c.997-3_997-2del	NP_056480.1:n.997-3_997-2del
XM_006719617.2:c.1012-3_1012-2del	XP_006719680.1:n.1012-3_1012-2del
XM_006719619.2:c.*4_*5del	XP_006719682.1:n.*4_*5del
XM_011538777.1:c.1012-3_1012-2del	XP_011537079.1:n.1012-3_1012-2del
XM_011538778.1:c.997-3_997-2del	XP_011537080.1:n.997-3_997-2del
XM_011538779.1:c.913-3_913-2del	XP_011537081.1:n.913-3_913-2del
XM_011538780.1:c.898-3_898-2del	XP_011537082.1:n.898-3_898-2del
XM_011538781.1:c.346-3_346-2del	XP_011537083.1:n.346-3_346-2del
XM_011538778.2:c.997-3_997-2del	XP_011537080.1:n.997-3_997-2del
XM_011538780.2:c.898-3_898-2del	XP_011537082.1:n.898-3_898-2del
XR_001748875.2:n.1051_1052del
NM_015665.6:c.997-3_997-2del MANE Select	NP_056480.1:n.997-3_997-2del
NM_001173466.2:c.898-3_898-2del	NP_001166937.1:n.898-3_898-2del