Canonical Allele Identifier: CA2275552729
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs2053483942

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75524633_75524664del , CM000679.2:g.75524633_75524664del GRCh38
NC_000017.10:g.73520714_73520745del , CM000679.1:g.73520714_73520745del GRCh37
NC_000017.9:g.71032309_71032340del NCBI36
NG_013041.1:g.13106_13137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.*221_*252del MANE Select ENSP00000327487.6:n.*221_*252del
ENST00000434205.8:c.*221_*252del ENSP00000406559.4:n.*221_*252del
ENST00000545228.3:c.*301_*332del ENSP00000438169.3:n.*301_*332del
ENST00000577197.2:n.1000_1031del
ENST00000579449.2:n.2542_2573del
ENST00000580013.6:n.2946_2977del
ENST00000679370.1:n.3324_3355del
ENST00000679429.1:c.*1260_*1291del ENSP00000505403.1:n.*1260_*1291del
ENST00000679443.1:n.1871_1902del
ENST00000679782.1:c.*501_*532del ENSP00000505995.1:n.*501_*532del
ENST00000679919.1:n.2073_2104del
ENST00000679928.1:c.*2354_*2385del ENSP00000506071.1:n.*2354_*2385del
ENST00000680999.1:c.*221_*252del ENSP00000504984.1:n.*221_*252del
ENST00000681282.1:c.*1989_*2020del ENSP00000506339.1:n.*1989_*2020del
ENST00000333213.10:c.*221_*252del ENSP00000327487.6:n.*221_*252del
ENST00000545228.2:c.1079_1110del
ENST00000577197.1:n.550_581del
NM_207346.2:c.*221_*252del NP_997229.2:n.*221_*252del
XM_005257229.2:c.*301_*332del XP_005257286.1:n.*301_*332del
XM_006721821.2:c.*301_*332del XP_006721884.1:n.*301_*332del
XM_011524616.1:c.*301_*332del XP_011522918.1:n.*301_*332del
XM_011524618.1:c.*221_*252del XP_011522920.1:n.*221_*252del
XR_243646.2:n.2034_2065del
XM_005257229.4:c.*301_*332del XP_005257286.1:n.*301_*332del
XR_243646.4:n.2040_2071del
NM_207346.3:c.*221_*252del MANE Select NP_997229.2:n.*221_*252del