Canonical Allele Identifier: CA173716
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 160129
dbSNP Id: rs587784476

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75523684del , CM000679.2:g.75523684del GRCh38
NC_000017.10:g.73519765del , CM000679.1:g.73519765del GRCh37
NC_000017.9:g.71031360del NCBI36
NG_013041.1:g.12157del

Transcript Alleles

HGVS Amino-acid change
ENST00000333213.11:c.1335del MANE Select ENSP00000327487.6:p.Leu446TrpfsTer?
ENST00000434205.8:c.1032del ENSP00000406559.4:p.Leu345TrpfsTer?
ENST00000545228.3:c.1523del ENSP00000438169.3:p.Ala508ValfsTer6
ENST00000577197.2:n.533del
ENST00000579449.2:n.2075del
ENST00000580013.6:n.2479del
ENST00000679370.1:n.2857del
ENST00000679429.1:c.*793del ENSP00000505403.1:n.*793del
ENST00000679443.1:n.1404del
ENST00000679782.1:c.*34del ENSP00000505995.1:n.*34del
ENST00000679919.1:n.1606del
ENST00000679928.1:c.*1887del ENSP00000506071.1:n.*1887del
ENST00000680528.1:n.2301del
ENST00000680999.1:c.1548del ENSP00000504984.1:p.Leu517TrpfsTer?
ENST00000681282.1:c.*1522del ENSP00000506339.1:n.*1522del
ENST00000333213.10:c.1335del ENSP00000327487.6:p.Leu446TrpfsTer?
ENST00000545228.2:c.612del
ENST00000577197.1:n.83del
ENST00000579449.1:n.532del
NM_207346.2:c.1335del NP_997229.2:p.Leu446TrpfsTer?
XM_005257229.2:c.1523del XP_005257286.1:p.Ala508ValfsTer6
XM_006721821.2:c.1220del XP_006721884.1:p.Ala407ValfsTer6
XM_011524616.1:c.1501+349del XP_011522918.1:n.1501+349del
XM_011524617.1:c.*12+349del XP_011522919.1:n.*12+349del
XM_011524618.1:c.1313+349del XP_011522920.1:n.1313+349del
XR_243646.2:n.1567del
XM_005257229.4:c.1523del XP_005257286.1:p.Ala508ValfsTer6
XR_001753015.1:n.88-316del
XR_001753016.1:n.89-280del
XR_243646.4:n.1573del
NM_207346.3:c.1335del MANE Select NP_997229.2:p.Leu446TrpfsTer?