Canonical Allele Identifier: CA2619036821

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307475-A-AAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307476_53307478dup , CM000674.2:g.53307476_53307478dup	GRCh38
NC_000012.11:g.53701260_53701262dup , CM000674.1:g.53701260_53701262dup	GRCh37
NC_000012.10:g.51987527_51987529dup	NCBI36
NG_016775.1:g.19151_19153dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.*11_*13dup MANE Select	ENSP00000209873.4:n.*11_*13dup
ENST00000548931.6:c.1087_1089dup	ENSP00000457518.1:n.1087_1089dup
ENST00000549450.6:n.1586_1588dup
ENST00000209873.8:c.*11_*13dup	ENSP00000209873.4:n.*11_*13dup
ENST00000394384.7:c.*11_*13dup	ENSP00000377908.3:n.*11_*13dup
ENST00000550286.5:c.*11_*13dup	ENSP00000446885.1:n.*11_*13dup
ENST00000552876.5:n.1995_1997dup
NM_001173466.1:c.*11_*13dup	NP_001166937.1:n.*11_*13dup
NM_015665.5:c.*11_*13dup	NP_056480.1:n.*11_*13dup
XM_006719617.2:c.*11_*13dup	XP_006719680.1:n.*11_*13dup
XM_011538777.1:c.*11_*13dup	XP_011537079.1:n.*11_*13dup
XM_011538778.1:c.*11_*13dup	XP_011537080.1:n.*11_*13dup
XM_011538779.1:c.*11_*13dup	XP_011537081.1:n.*11_*13dup
XM_011538780.1:c.*11_*13dup	XP_011537082.1:n.*11_*13dup
XM_011538781.1:c.*11_*13dup	XP_011537083.1:n.*11_*13dup
XM_011538778.2:c.*11_*13dup	XP_011537080.1:n.*11_*13dup
XM_011538780.2:c.*11_*13dup	XP_011537082.1:n.*11_*13dup
NM_015665.6:c.*11_*13dup MANE Select	NP_056480.1:n.*11_*13dup
NM_001173466.2:c.*11_*13dup	NP_001166937.1:n.*11_*13dup