Canonical Allele Identifier: CA775076211
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1181178326

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75521579_75521582del , CM000679.2:g.75521579_75521582del GRCh38
NC_000017.10:g.73517660_73517663del , CM000679.1:g.73517660_73517663del GRCh37
NC_000017.9:g.71029255_71029258del NCBI36
NG_013041.1:g.10052_10055del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.623+69_623+72del MANE Select ENSP00000327487.6:n.623+69_623+72del
ENST00000434205.8:c.320+69_320+72del ENSP00000406559.4:n.320+69_320+72del
ENST00000545228.3:c.623+69_623+72del ENSP00000438169.3:n.623+69_623+72del
ENST00000579449.2:n.422+69_422+72del
ENST00000580013.6:n.701_704del
ENST00000583818.2:c.677+69_677+72del ENSP00000461928.2:n.677+69_677+72del
ENST00000679370.1:n.1079_1082del
ENST00000679429.1:c.*81+69_*81+72del ENSP00000505403.1:n.*81+69_*81+72del
ENST00000679443.1:n.567_570del
ENST00000679782.1:c.623+69_623+72del ENSP00000505995.1:n.623+69_623+72del
ENST00000679919.1:n.567_570del
ENST00000679928.1:c.*234+69_*234+72del ENSP00000506071.1:n.*234+69_*234+72del
ENST00000680528.1:n.648+69_648+72del
ENST00000680999.1:c.623+69_623+72del ENSP00000504984.1:n.623+69_623+72del
ENST00000681282.1:c.623+69_623+72del ENSP00000506339.1:n.623+69_623+72del
ENST00000333213.10:c.623+69_623+72del ENSP00000327487.6:n.623+69_623+72del
ENST00000578415.1:c.583+69_583+72del
ENST00000583173.5:c.458+69_458+72del ENSP00000463619.1:n.458+69_458+72del
ENST00000583818.1:c.572+69_572+72del ENSP00000461928.1:n.572+69_572+72del
NM_207346.2:c.623+69_623+72del NP_997229.2:n.623+69_623+72del
XM_005257229.2:c.623+69_623+72del XP_005257286.1:n.623+69_623+72del
XM_006721821.2:c.320+69_320+72del XP_006721884.1:n.320+69_320+72del
XM_011524616.1:c.623+69_623+72del XP_011522918.1:n.623+69_623+72del
XM_011524617.1:c.623+69_623+72del XP_011522919.1:n.623+69_623+72del
XM_011524618.1:c.623+69_623+72del XP_011522920.1:n.623+69_623+72del
XR_243646.2:n.653+69_653+72del
XM_005257229.4:c.623+69_623+72del XP_005257286.1:n.623+69_623+72del
XR_243646.4:n.659+69_659+72del
NM_207346.3:c.623+69_623+72del MANE Select NP_997229.2:n.623+69_623+72del