Canonical Allele Identifier: CA605243942

Gene: AAAS

Linked Data

• dbSNP Id: rs1565777416
• gnomAD v2: 12-53702617-A-ATTT
• gnomAD v4: 12-53308833-A-ATTT
• MyVariant Identifiers: chr12:g.53702617_53702618insTTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308833_53308834insTTT , CM000674.2:g.53308833_53308834insTTT	GRCh38
NC_000012.11:g.53702617_53702618insTTT , CM000674.1:g.53702617_53702618insTTT	GRCh37
NC_000012.10:g.51988884_51988885insTTT	NCBI36
NG_016775.1:g.17795_17796insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997-19_997-18insAAA MANE Select	ENSP00000209873.4:n.997-19_997-18insAAA
ENST00000546393.7:n.1842-19_1842-18insAAA
ENST00000546562.6:n.2061-19_2061-18insAAA
ENST00000547238.6:n.1633-19_1633-18insAAA
ENST00000547520.6:n.991-19_991-18insAAA
ENST00000547757.2:c.46-19_46-18insAAA	ENSP00000448020.2:n.46-19_46-18insAAA
ENST00000548880.2:n.1447-19_1447-18insAAA
ENST00000548931.6:c.517-19_517-18insAAA	ENSP00000457518.1:n.517-19_517-18insAAA
ENST00000549450.6:n.931-19_931-18insAAA
ENST00000552161.6:n.1953-19_1953-18insAAA
ENST00000672797.1:n.1467_1468insAAA
ENST00000672900.1:n.1920_1921insAAA
ENST00000209873.8:c.997-19_997-18insAAA	ENSP00000209873.4:n.997-19_997-18insAAA
ENST00000394384.7:c.898-19_898-18insAAA	ENSP00000377908.3:n.898-19_898-18insAAA
ENST00000547520.5:n.701-19_701-18insAAA
ENST00000548931.5:c.517-19_517-18insAAA	ENSP00000457518.1:n.517-19_517-18insAAA
ENST00000550033.5:n.252-19_252-18insAAA
ENST00000550286.5:c.625-19_625-18insAAA	ENSP00000446885.1:n.625-19_625-18insAAA
ENST00000552876.5:n.1340-19_1340-18insAAA
NM_001173466.1:c.898-19_898-18insAAA	NP_001166937.1:n.898-19_898-18insAAA
NM_015665.5:c.997-19_997-18insAAA	NP_056480.1:n.997-19_997-18insAAA
XM_006719617.2:c.1012-19_1012-18insAAA	XP_006719680.1:n.1012-19_1012-18insAAA
XM_006719619.2:c.1029_1030insAAA	XP_006719682.1:p.Pro343_Phe344insLys
XM_011538777.1:c.1012-19_1012-18insAAA	XP_011537079.1:n.1012-19_1012-18insAAA
XM_011538778.1:c.997-19_997-18insAAA	XP_011537080.1:n.997-19_997-18insAAA
XM_011538779.1:c.913-19_913-18insAAA	XP_011537081.1:n.913-19_913-18insAAA
XM_011538780.1:c.898-19_898-18insAAA	XP_011537082.1:n.898-19_898-18insAAA
XM_011538781.1:c.346-19_346-18insAAA	XP_011537083.1:n.346-19_346-18insAAA
XM_011538778.2:c.997-19_997-18insAAA	XP_011537080.1:n.997-19_997-18insAAA
XM_011538780.2:c.898-19_898-18insAAA	XP_011537082.1:n.898-19_898-18insAAA
XR_001748875.2:n.1035_1036insAAA
NM_015665.6:c.997-19_997-18insAAA MANE Select	NP_056480.1:n.997-19_997-18insAAA
NM_001173466.2:c.898-19_898-18insAAA	NP_001166937.1:n.898-19_898-18insAAA