Canonical Allele Identifier: CA986324289

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053426046

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521433del , CM000679.2:g.75521433del	GRCh38
NC_000017.10:g.73517514del , CM000679.1:g.73517514del	GRCh37
NC_000017.9:g.71029109del	NCBI36
NG_013041.1:g.9906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.546del MANE Select	ENSP00000327487.6:p.Arg182SerfsTer?
ENST00000434205.8:c.243del	ENSP00000406559.4:p.Arg81SerfsTer?
ENST00000545228.3:c.546del	ENSP00000438169.3:p.Arg182SerfsTer?
ENST00000579449.2:n.345del
ENST00000580013.6:n.555del
ENST00000583818.2:c.600del	ENSP00000461928.2:n.600del
ENST00000679370.1:n.933del
ENST00000679429.1:c.*4del	ENSP00000505403.1:n.*4del
ENST00000679443.1:n.421del
ENST00000679782.1:c.546del	ENSP00000505995.1:p.Arg182SerfsTer?
ENST00000679919.1:n.421del
ENST00000679928.1:c.*157del	ENSP00000506071.1:n.*157del
ENST00000680528.1:n.571del
ENST00000680999.1:c.546del	ENSP00000504984.1:p.Arg182SerfsTer?
ENST00000681282.1:c.546del	ENSP00000506339.1:p.Arg182SerfsTer?
ENST00000333213.10:c.546del	ENSP00000327487.6:p.Arg182SerfsTer?
ENST00000578415.1:c.506del
ENST00000580013.5:n.563del
ENST00000583173.5:c.381del	ENSP00000463619.1:p.Arg127SerfsTer?
ENST00000583818.1:c.495del	ENSP00000461928.1:n.495del
NM_207346.2:c.546del	NP_997229.2:p.Arg182SerfsTer?
XM_005257229.2:c.546del	XP_005257286.1:p.Arg182SerfsTer?
XM_006721821.2:c.243del	XP_006721884.1:p.Arg81SerfsTer?
XM_011524616.1:c.546del	XP_011522918.1:p.Arg182SerfsTer?
XM_011524617.1:c.546del	XP_011522919.1:p.Arg182SerfsTer?
XM_011524618.1:c.546del	XP_011522920.1:p.Arg182SerfsTer?
XR_243646.2:n.576del
XM_005257229.4:c.546del	XP_005257286.1:p.Arg182SerfsTer?
XR_243646.4:n.582del
NM_207346.3:c.546del MANE Select	NP_997229.2:p.Arg182SerfsTer?