Canonical Allele Identifier: CA501042
Community Standard Title: NM_015665.6(AAAS):c.855_856delinsTT (p.Phe286Ter)
Gene: AAAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53309236_53309237delinsAA , CM000674.2:g.53309236_53309237delinsAA GRCh38
NC_000012.11:g.53703020_53703021delinsAA , CM000674.1:g.53703020_53703021delinsAA GRCh37
NC_000012.10:g.51989287_51989288delinsAA NCBI36
NG_016775.1:g.17392_17393delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_015665.6:c.855_856delinsTT MANE Select NP_056480.1:p.Phe286Ter
ENST00000209873.9:c.855_856delinsTT MANE Select ENSP00000209873.4:p.Phe286Ter
NM_001173466.1:c.756_757delinsTT NP_001166937.1:p.Phe253Ter
NM_001173466.2:c.756_757delinsTT NP_001166937.1:p.Phe253Ter
NM_015665.5:c.855_856delinsTT NP_056480.1:p.Phe286Ter
ENST00000209873.8:c.855_856delinsTT ENSP00000209873.4:p.Phe286Ter
ENST00000394384.7:c.756_757delinsTT ENSP00000377908.3:p.Phe253Ter
ENST00000546393.6:n.752_753delinsTT
ENST00000546393.7:n.1700_1701delinsTT
ENST00000546562.6:n.1919_1920delinsTT
ENST00000546572.1:n.307_308delinsTT
ENST00000547238.6:n.1491_1492delinsTT
ENST00000547520.5:n.559_560delinsTT
ENST00000547520.6:n.849_850delinsTT
ENST00000547757.1:c.756_757delinsTT ENSP00000448020.1:p.Phe253Ter
ENST00000547757.2:c.-97_-96delinsTT ENSP00000448020.2:n.-97_-96delinsTT
ENST00000547761.6:n.747_748delinsTT
ENST00000548880.2:n.1305_1306delinsTT
ENST00000548931.5:c.375_376delinsTT ENSP00000457518.1:p.Phe126Ter
ENST00000548931.6:c.375_376delinsTT ENSP00000457518.1:p.Phe126Ter
ENST00000549450.6:n.789_790delinsTT
ENST00000550033.5:n.110_111delinsTT
ENST00000550286.5:c.483_484delinsTT ENSP00000446885.1:p.Phe162Ter
ENST00000552161.6:n.1811_1812delinsTT
ENST00000552876.5:n.1198_1199delinsTT
ENST00000672797.1:n.1308_1309delinsTT
ENST00000672900.1:n.1653_1654delinsTT
XM_006719617.2:c.870_871delinsTT XP_006719680.1:p.Phe291Ter
XM_006719619.2:c.870_871delinsTT XP_006719682.1:p.Phe291Ter
XM_011538777.1:c.870_871delinsTT XP_011537079.1:p.Phe291Ter
XM_011538778.1:c.855_856delinsTT XP_011537080.1:p.Phe286Ter
XM_011538778.2:c.855_856delinsTT XP_011537080.1:p.Phe286Ter
XM_011538779.1:c.771_772delinsTT XP_011537081.1:p.Phe258Ter
XM_011538780.1:c.756_757delinsTT XP_011537082.1:p.Phe253Ter
XM_011538780.2:c.756_757delinsTT XP_011537082.1:p.Phe253Ter
XM_011538781.1:c.204_205delinsTT XP_011537083.1:p.Phe69Ter
XR_001748875.2:n.876_877delinsTT