Canonical Allele Identifier: CA2619037687

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308833-AAGGCAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308836_53308842del , CM000674.2:g.53308836_53308842del	GRCh38
NC_000012.11:g.53702620_53702626del , CM000674.1:g.53702620_53702626del	GRCh37
NC_000012.10:g.51988887_51988893del	NCBI36
NG_016775.1:g.17789_17795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997-25_997-19del MANE Select	ENSP00000209873.4:n.997-25_997-19del
ENST00000546393.7:n.1842-25_1842-19del
ENST00000546562.6:n.2061-25_2061-19del
ENST00000547238.6:n.1633-25_1633-19del
ENST00000547520.6:n.991-25_991-19del
ENST00000547757.2:c.46-25_46-19del	ENSP00000448020.2:n.46-25_46-19del
ENST00000548880.2:n.1447-25_1447-19del
ENST00000548931.6:c.517-25_517-19del	ENSP00000457518.1:n.517-25_517-19del
ENST00000549450.6:n.931-25_931-19del
ENST00000552161.6:n.1953-25_1953-19del
ENST00000672797.1:n.1461_1467del
ENST00000672900.1:n.1914_1920del
ENST00000209873.8:c.997-25_997-19del	ENSP00000209873.4:n.997-25_997-19del
ENST00000394384.7:c.898-25_898-19del	ENSP00000377908.3:n.898-25_898-19del
ENST00000547520.5:n.701-25_701-19del
ENST00000548931.5:c.517-25_517-19del	ENSP00000457518.1:n.517-25_517-19del
ENST00000550033.5:n.252-25_252-19del
ENST00000550286.5:c.625-25_625-19del	ENSP00000446885.1:n.625-25_625-19del
ENST00000552876.5:n.1340-25_1340-19del
NM_001173466.1:c.898-25_898-19del	NP_001166937.1:n.898-25_898-19del
NM_015665.5:c.997-25_997-19del	NP_056480.1:n.997-25_997-19del
XM_006719617.2:c.1012-25_1012-19del	XP_006719680.1:n.1012-25_1012-19del
XM_006719619.2:c.1023_1029del	XP_006719682.1:p.Pro343LeufsTer?
XM_011538777.1:c.1012-25_1012-19del	XP_011537079.1:n.1012-25_1012-19del
XM_011538778.1:c.997-25_997-19del	XP_011537080.1:n.997-25_997-19del
XM_011538779.1:c.913-25_913-19del	XP_011537081.1:n.913-25_913-19del
XM_011538780.1:c.898-25_898-19del	XP_011537082.1:n.898-25_898-19del
XM_011538781.1:c.346-25_346-19del	XP_011537083.1:n.346-25_346-19del
XM_011538778.2:c.997-25_997-19del	XP_011537080.1:n.997-25_997-19del
XM_011538780.2:c.898-25_898-19del	XP_011537082.1:n.898-25_898-19del
XR_001748875.2:n.1029_1035del
NM_015665.6:c.997-25_997-19del MANE Select	NP_056480.1:n.997-25_997-19del
NM_001173466.2:c.898-25_898-19del	NP_001166937.1:n.898-25_898-19del