Canonical Allele Identifier: CA2275551198
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75521750_75521752delinsCAA , CM000679.2:g.75521750_75521752delinsCAA GRCh38
NC_000017.10:g.73517831_73517833delinsCAA , CM000679.1:g.73517831_73517833delinsCAA GRCh37
NC_000017.9:g.71029426_71029428delinsCAA NCBI36
NG_013041.1:g.10223_10225delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.669_671delinsCAA MANE Select ENSP00000327487.6:p.Pro223=
ENST00000434205.8:c.366_368delinsCAA ENSP00000406559.4:p.Pro122=
ENST00000545228.3:c.669_671delinsCAA ENSP00000438169.3:p.Pro223=
ENST00000579449.2:n.468_470delinsCAA
ENST00000580013.6:n.872_874delinsCAA
ENST00000583818.2:c.723_725delinsCAA ENSP00000461928.2:n.723_725delinsCAA
ENST00000679370.1:n.1250_1252delinsCAA
ENST00000679429.1:c.*127_*129delinsCAA ENSP00000505403.1:n.*127_*129delinsCAA
ENST00000679443.1:n.738_740delinsCAA
ENST00000679782.1:c.669_671delinsCAA ENSP00000505995.1:p.Pro223=
ENST00000679919.1:n.738_740delinsCAA
ENST00000679928.1:c.*280_*282delinsCAA ENSP00000506071.1:n.*280_*282delinsCAA
ENST00000680528.1:n.694_696delinsCAA
ENST00000680999.1:c.669_671delinsCAA ENSP00000504984.1:p.Pro223=
ENST00000681282.1:c.698_700delinsCAA ENSP00000506339.1:p.Pro233=
ENST00000333213.10:c.669_671delinsCAA ENSP00000327487.6:p.Pro223=
ENST00000578415.1:c.629_631delinsCAA
ENST00000583173.5:c.458+240_458+242delinsCAA ENSP00000463619.1:n.458+240_458+242delinsCAA
ENST00000583818.1:c.618_620delinsCAA ENSP00000461928.1:n.618_620delinsCAA
NM_207346.2:c.669_671delinsCAA NP_997229.2:p.Pro223=
XM_005257229.2:c.669_671delinsCAA XP_005257286.1:p.Pro223=
XM_006721821.2:c.366_368delinsCAA XP_006721884.1:p.Pro122=
XM_011524616.1:c.669_671delinsCAA XP_011522918.1:p.Pro223=
XM_011524617.1:c.669_671delinsCAA XP_011522919.1:p.Pro223=
XM_011524618.1:c.669_671delinsCAA XP_011522920.1:p.Pro223=
XR_243646.2:n.699_701delinsCAA
XM_005257229.4:c.669_671delinsCAA XP_005257286.1:p.Pro223=
XR_243646.4:n.705_707delinsCAA
NM_207346.3:c.669_671delinsCAA MANE Select NP_997229.2:p.Pro223=