Canonical Allele Identifier: CA986322494
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs2053373242

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516832_75516875del , CM000679.2:g.75516832_75516875del GRCh38
NC_000017.10:g.73512913_73512956del , CM000679.1:g.73512913_73512956del GRCh37
NC_000017.9:g.71024508_71024551del NCBI36
NG_013041.1:g.5305_5348del
NG_033152.1:g.3709_3752del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.143_186del MANE Select ENSP00000327487.6:p.Ser48LeufsTer?
ENST00000434205.8:c.-82-177_-82-134del ENSP00000406559.4:n.-82-177_-82-134del
ENST00000545228.3:c.143_186del ENSP00000438169.3:p.Ser48LeufsTer?
ENST00000579449.2:n.21-177_21-134del
ENST00000580013.6:n.152_195del
ENST00000583818.2:c.143_186del ENSP00000461928.2:p.Ser48LeufsTer?
ENST00000679370.1:n.530_573del
ENST00000679429.1:c.143_186del ENSP00000505403.1:p.Ser48LeufsTer?
ENST00000679443.1:n.18_61del
ENST00000679782.1:c.143_186del ENSP00000505995.1:p.Ser48LeufsTer?
ENST00000679919.1:n.18_61del
ENST00000679928.1:c.143_186del ENSP00000506071.1:p.Ser48LeufsTer?
ENST00000680528.1:n.168_211del
ENST00000680999.1:c.143_186del ENSP00000504984.1:p.Ser48LeufsTer?
ENST00000681282.1:c.143_186del ENSP00000506339.1:p.Ser48LeufsTer?
ENST00000333213.10:c.143_186del ENSP00000327487.6:p.Ser48LeufsTer?
ENST00000434205.7:c.-82-177_-82-134del ENSP00000406559.3:n.-82-177_-82-134del
ENST00000578415.1:c.21_64del
ENST00000580013.5:n.168_211del
ENST00000583173.5:c.57-177_57-134del ENSP00000463619.1:n.57-177_57-134del
ENST00000583454.1:n.178_221del
ENST00000583818.1:c.38_81del ENSP00000461928.1:p.Ser13LeufsTer?
NM_207346.2:c.143_186del NP_997229.2:p.Ser48LeufsTer?
XM_005257229.2:c.143_186del XP_005257286.1:p.Ser48LeufsTer?
XM_006721821.2:c.-161_-118del XP_006721884.1:n.-161_-118del
XM_011524616.1:c.143_186del XP_011522918.1:p.Ser48LeufsTer?
XM_011524617.1:c.143_186del XP_011522919.1:p.Ser48LeufsTer?
XM_011524618.1:c.143_186del XP_011522920.1:p.Ser48LeufsTer?
XR_243646.2:n.173_216del
XM_005257229.4:c.143_186del XP_005257286.1:p.Ser48LeufsTer?
XR_243646.4:n.179_222del
NM_207346.3:c.143_186del MANE Select NP_997229.2:p.Ser48LeufsTer?