Canonical Allele Identifier: CA2639826884
Gene: TSEN54 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75521565_75521570del , CM000679.2:g.75521565_75521570del GRCh38
NC_000017.10:g.73517646_73517651del , CM000679.1:g.73517646_73517651del GRCh37
NC_000017.9:g.71029241_71029246del NCBI36
NG_013041.1:g.10038_10043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.623+55_623+60del MANE Select ENSP00000327487.6:n.623+55_623+60del
ENST00000434205.8:c.320+55_320+60del ENSP00000406559.4:n.320+55_320+60del
ENST00000545228.3:c.623+55_623+60del ENSP00000438169.3:n.623+55_623+60del
ENST00000579449.2:n.422+55_422+60del
ENST00000580013.6:n.687_692del
ENST00000583818.2:c.677+55_677+60del ENSP00000461928.2:n.677+55_677+60del
ENST00000679370.1:n.1065_1070del
ENST00000679429.1:c.*81+55_*81+60del ENSP00000505403.1:n.*81+55_*81+60del
ENST00000679443.1:n.553_558del
ENST00000679782.1:c.623+55_623+60del ENSP00000505995.1:n.623+55_623+60del
ENST00000679919.1:n.553_558del
ENST00000679928.1:c.*234+55_*234+60del ENSP00000506071.1:n.*234+55_*234+60del
ENST00000680528.1:n.648+55_648+60del
ENST00000680999.1:c.623+55_623+60del ENSP00000504984.1:n.623+55_623+60del
ENST00000681282.1:c.623+55_623+60del ENSP00000506339.1:n.623+55_623+60del
ENST00000333213.10:c.623+55_623+60del ENSP00000327487.6:n.623+55_623+60del
ENST00000578415.1:c.583+55_583+60del
ENST00000583173.5:c.458+55_458+60del ENSP00000463619.1:n.458+55_458+60del
ENST00000583818.1:c.572+55_572+60del ENSP00000461928.1:n.572+55_572+60del
NM_207346.2:c.623+55_623+60del NP_997229.2:n.623+55_623+60del
XM_005257229.2:c.623+55_623+60del XP_005257286.1:n.623+55_623+60del
XM_006721821.2:c.320+55_320+60del XP_006721884.1:n.320+55_320+60del
XM_011524616.1:c.623+55_623+60del XP_011522918.1:n.623+55_623+60del
XM_011524617.1:c.623+55_623+60del XP_011522919.1:n.623+55_623+60del
XM_011524618.1:c.623+55_623+60del XP_011522920.1:n.623+55_623+60del
XR_243646.2:n.653+55_653+60del
XM_005257229.4:c.623+55_623+60del XP_005257286.1:n.623+55_623+60del
XR_243646.4:n.659+55_659+60del
NM_207346.3:c.623+55_623+60del MANE Select NP_997229.2:n.623+55_623+60del