Canonical Allele Identifier: CA2275552444
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75524040_75524041delinsGT , CM000679.2:g.75524040_75524041delinsGT GRCh38
NC_000017.10:g.73520121_73520122delinsGT , CM000679.1:g.73520121_73520122delinsGT GRCh37
NC_000017.9:g.71031716_71031717delinsGT NCBI36
NG_013041.1:g.12513_12514delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.1431-222_1431-221delinsGT MANE Select ENSP00000327487.6:n.1431-222_1431-221delinsGT
ENST00000434205.8:c.1128-222_1128-221delinsGT ENSP00000406559.4:n.1128-222_1128-221delinsGT
ENST00000545228.3:c.1619-222_1619-221delinsGT ENSP00000438169.3:n.1619-222_1619-221delinsGT
ENST00000577197.2:n.629-222_629-221delinsGT
ENST00000579449.2:n.2171-222_2171-221delinsGT
ENST00000580013.6:n.2575-222_2575-221delinsGT
ENST00000679370.1:n.2953-222_2953-221delinsGT
ENST00000679429.1:c.*889-222_*889-221delinsGT ENSP00000505403.1:n.*889-222_*889-221delinsGT
ENST00000679443.1:n.1500-222_1500-221delinsGT
ENST00000679782.1:c.*130-222_*130-221delinsGT ENSP00000505995.1:n.*130-222_*130-221delinsGT
ENST00000679919.1:n.1702-222_1702-221delinsGT
ENST00000679928.1:c.*1983-222_*1983-221delinsGT ENSP00000506071.1:n.*1983-222_*1983-221delinsGT
ENST00000680528.1:n.2397-222_2397-221delinsGT
ENST00000680999.1:c.1644-222_1644-221delinsGT ENSP00000504984.1:n.1644-222_1644-221delinsGT
ENST00000681282.1:c.*1618-222_*1618-221delinsGT ENSP00000506339.1:n.*1618-222_*1618-221delinsGT
ENST00000333213.10:c.1431-222_1431-221delinsGT ENSP00000327487.6:n.1431-222_1431-221delinsGT
ENST00000545228.2:c.708-222_708-221delinsGT
ENST00000577197.1:n.179-222_179-221delinsGT
ENST00000579449.1:n.628-222_628-221delinsGT
NM_207346.2:c.1431-222_1431-221delinsGT NP_997229.2:n.1431-222_1431-221delinsGT
XM_005257229.2:c.1619-222_1619-221delinsGT XP_005257286.1:n.1619-222_1619-221delinsGT
XM_006721821.2:c.1316-222_1316-221delinsGT XP_006721884.1:n.1316-222_1316-221delinsGT
XM_011524616.1:c.1502-222_1502-221delinsGT XP_011522918.1:n.1502-222_1502-221delinsGT
XM_011524617.1:c.*13-222_*13-221delinsGT XP_011522919.1:n.*13-222_*13-221delinsGT
XM_011524618.1:c.1314-222_1314-221delinsGT XP_011522920.1:n.1314-222_1314-221delinsGT
XR_243646.2:n.1663-222_1663-221delinsGT
XM_005257229.4:c.1619-222_1619-221delinsGT XP_005257286.1:n.1619-222_1619-221delinsGT
XR_001753015.1:n.87+270_87+271delinsAC
XR_001753016.1:n.88+270_88+271delinsAC
XR_243646.4:n.1669-222_1669-221delinsGT
NM_207346.3:c.1431-222_1431-221delinsGT MANE Select NP_997229.2:n.1431-222_1431-221delinsGT