Canonical Allele Identifier: CA2619037732

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308936-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308939_53308940dup , CM000674.2:g.53308939_53308940dup	GRCh38
NC_000012.11:g.53702723_53702724dup , CM000674.1:g.53702723_53702724dup	GRCh37
NC_000012.10:g.51988990_51988991dup	NCBI36
NG_016775.1:g.17691_17692dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.996+22_996+23dup MANE Select	ENSP00000209873.4:n.996+22_996+23dup
ENST00000546393.7:n.1841+22_1841+23dup
ENST00000546562.6:n.2060+22_2060+23dup
ENST00000547238.6:n.1632+22_1632+23dup
ENST00000547520.6:n.990+22_990+23dup
ENST00000547757.2:c.45+22_45+23dup	ENSP00000448020.2:n.45+22_45+23dup
ENST00000548880.2:n.1446+22_1446+23dup
ENST00000548931.6:c.516+22_516+23dup	ENSP00000457518.1:n.516+22_516+23dup
ENST00000549450.6:n.930+22_930+23dup
ENST00000552161.6:n.1952+22_1952+23dup
ENST00000672797.1:n.1449+22_1449+23dup
ENST00000672900.1:n.1816_1817dup
ENST00000209873.8:c.996+22_996+23dup	ENSP00000209873.4:n.996+22_996+23dup
ENST00000394384.7:c.897+22_897+23dup	ENSP00000377908.3:n.897+22_897+23dup
ENST00000547520.5:n.700+22_700+23dup
ENST00000548931.5:c.516+22_516+23dup	ENSP00000457518.1:n.516+22_516+23dup
ENST00000550033.5:n.251+22_251+23dup
ENST00000550286.5:c.624+22_624+23dup	ENSP00000446885.1:n.624+22_624+23dup
ENST00000552876.5:n.1339+22_1339+23dup
NM_001173466.1:c.897+22_897+23dup	NP_001166937.1:n.897+22_897+23dup
NM_015665.5:c.996+22_996+23dup	NP_056480.1:n.996+22_996+23dup
XM_006719617.2:c.1011+22_1011+23dup	XP_006719680.1:n.1011+22_1011+23dup
XM_006719619.2:c.1011+22_1011+23dup	XP_006719682.1:n.1011+22_1011+23dup
XM_011538777.1:c.1011+22_1011+23dup	XP_011537079.1:n.1011+22_1011+23dup
XM_011538778.1:c.996+22_996+23dup	XP_011537080.1:n.996+22_996+23dup
XM_011538779.1:c.912+22_912+23dup	XP_011537081.1:n.912+22_912+23dup
XM_011538780.1:c.897+22_897+23dup	XP_011537082.1:n.897+22_897+23dup
XM_011538781.1:c.345+22_345+23dup	XP_011537083.1:n.345+22_345+23dup
XM_011538778.2:c.996+22_996+23dup	XP_011537080.1:n.996+22_996+23dup
XM_011538780.2:c.897+22_897+23dup	XP_011537082.1:n.897+22_897+23dup
XR_001748875.2:n.1017+22_1017+23dup
NM_015665.6:c.996+22_996+23dup MANE Select	NP_056480.1:n.996+22_996+23dup
NM_001173466.2:c.897+22_897+23dup	NP_001166937.1:n.897+22_897+23dup