Canonical Allele Identifier: CA2275551082
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs2053426851

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75521519_75521521del , CM000679.2:g.75521519_75521521del GRCh38
NC_000017.10:g.73517600_73517602del , CM000679.1:g.73517600_73517602del GRCh37
NC_000017.9:g.71029195_71029197del NCBI36
NG_013041.1:g.9992_9994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.623+9_623+11del MANE Select ENSP00000327487.6:n.623+9_623+11del
ENST00000434205.8:c.320+9_320+11del ENSP00000406559.4:n.320+9_320+11del
ENST00000545228.3:c.623+9_623+11del ENSP00000438169.3:n.623+9_623+11del
ENST00000579449.2:n.422+9_422+11del
ENST00000580013.6:n.641_643del
ENST00000583818.2:c.677+9_677+11del ENSP00000461928.2:n.677+9_677+11del
ENST00000679370.1:n.1019_1021del
ENST00000679429.1:c.*81+9_*81+11del ENSP00000505403.1:n.*81+9_*81+11del
ENST00000679443.1:n.507_509del
ENST00000679782.1:c.623+9_623+11del ENSP00000505995.1:n.623+9_623+11del
ENST00000679919.1:n.507_509del
ENST00000679928.1:c.*234+9_*234+11del ENSP00000506071.1:n.*234+9_*234+11del
ENST00000680528.1:n.648+9_648+11del
ENST00000680999.1:c.623+9_623+11del ENSP00000504984.1:n.623+9_623+11del
ENST00000681282.1:c.623+9_623+11del ENSP00000506339.1:n.623+9_623+11del
ENST00000333213.10:c.623+9_623+11del ENSP00000327487.6:n.623+9_623+11del
ENST00000578415.1:c.583+9_583+11del
ENST00000583173.5:c.458+9_458+11del ENSP00000463619.1:n.458+9_458+11del
ENST00000583818.1:c.572+9_572+11del ENSP00000461928.1:n.572+9_572+11del
NM_207346.2:c.623+9_623+11del NP_997229.2:n.623+9_623+11del
XM_005257229.2:c.623+9_623+11del XP_005257286.1:n.623+9_623+11del
XM_006721821.2:c.320+9_320+11del XP_006721884.1:n.320+9_320+11del
XM_011524616.1:c.623+9_623+11del XP_011522918.1:n.623+9_623+11del
XM_011524617.1:c.623+9_623+11del XP_011522919.1:n.623+9_623+11del
XM_011524618.1:c.623+9_623+11del XP_011522920.1:n.623+9_623+11del
XR_243646.2:n.653+9_653+11del
XM_005257229.4:c.623+9_623+11del XP_005257286.1:n.623+9_623+11del
XR_243646.4:n.659+9_659+11del
NM_207346.3:c.623+9_623+11del MANE Select NP_997229.2:n.623+9_623+11del