Canonical Allele Identifier: CA2036910223
Gene: AAAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53308993_53308994delinsAC , CM000674.2:g.53308993_53308994delinsAC GRCh38
NC_000012.11:g.53702777_53702778delinsAC , CM000674.1:g.53702777_53702778delinsAC GRCh37
NC_000012.10:g.51989044_51989045delinsAC NCBI36
NG_016775.1:g.17635_17636delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.962_963delinsGT MANE Select ENSP00000209873.4:p.Cys321=
ENST00000546393.7:n.1807_1808delinsGT
ENST00000546562.6:n.2026_2027delinsGT
ENST00000547238.6:n.1598_1599delinsGT
ENST00000547520.6:n.956_957delinsGT
ENST00000547757.2:c.11_12delinsGT ENSP00000448020.2:p.Cys4=
ENST00000548880.2:n.1412_1413delinsGT
ENST00000548931.6:c.482_483delinsGT ENSP00000457518.1:p.Cys161=
ENST00000549450.6:n.896_897delinsGT
ENST00000552161.6:n.1918_1919delinsGT
ENST00000672797.1:n.1415_1416delinsGT
ENST00000672900.1:n.1760_1761delinsGT
ENST00000209873.8:c.962_963delinsGT ENSP00000209873.4:p.Cys321=
ENST00000394384.7:c.863_864delinsGT ENSP00000377908.3:p.Cys288=
ENST00000546572.1:n.550_551delinsGT
ENST00000547520.5:n.666_667delinsGT
ENST00000548931.5:c.482_483delinsGT ENSP00000457518.1:p.Cys161=
ENST00000550033.5:n.217_218delinsGT
ENST00000550286.5:c.590_591delinsGT ENSP00000446885.1:p.Cys197=
ENST00000552876.5:n.1305_1306delinsGT
NM_001173466.1:c.863_864delinsGT NP_001166937.1:p.Cys288=
NM_015665.5:c.962_963delinsGT NP_056480.1:p.Cys321=
XM_006719617.2:c.977_978delinsGT XP_006719680.1:p.Cys326=
XM_006719619.2:c.977_978delinsGT XP_006719682.1:p.Cys326=
XM_011538777.1:c.977_978delinsGT XP_011537079.1:p.Cys326=
XM_011538778.1:c.962_963delinsGT XP_011537080.1:p.Cys321=
XM_011538779.1:c.878_879delinsGT XP_011537081.1:p.Cys293=
XM_011538780.1:c.863_864delinsGT XP_011537082.1:p.Cys288=
XM_011538781.1:c.311_312delinsGT XP_011537083.1:p.Cys104=
XM_011538778.2:c.962_963delinsGT XP_011537080.1:p.Cys321=
XM_011538780.2:c.863_864delinsGT XP_011537082.1:p.Cys288=
XR_001748875.2:n.983_984delinsGT
NM_015665.6:c.962_963delinsGT MANE Select NP_056480.1:p.Cys321=
NM_001173466.2:c.863_864delinsGT NP_001166937.1:p.Cys288=