Canonical Allele Identifier: CA627594385

Gene: TSEN54

Linked Data

• dbSNP Id: rs1338171913
• gnomAD v2: 17-73517885-AGAG-A
• gnomAD v4: 17-75521804-AGAG-A
• MyVariant Identifiers: chr17:g.73517886_73517888del (hg19) ; chr17:g.75521805_75521807del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521808_75521810del , CM000679.2:g.75521808_75521810del	GRCh38
NC_000017.10:g.73517889_73517891del , CM000679.1:g.73517889_73517891del	GRCh37
NC_000017.9:g.71029484_71029486del	NCBI36
NG_013041.1:g.10281_10283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.727_729del MANE Select	ENSP00000327487.6:p.Glu243del
ENST00000434205.8:c.424_426del	ENSP00000406559.4:p.Glu142del
ENST00000545228.3:c.727_729del	ENSP00000438169.3:p.Glu243del
ENST00000579449.2:n.526_528del
ENST00000580013.6:n.930_932del
ENST00000583818.2:c.781_783del	ENSP00000461928.2:n.781_783del
ENST00000679370.1:n.1308_1310del
ENST00000679429.1:c.*185_*187del	ENSP00000505403.1:n.*185_*187del
ENST00000679443.1:n.796_798del
ENST00000679782.1:c.727_729del	ENSP00000505995.1:p.Glu243del
ENST00000679919.1:n.796_798del
ENST00000679928.1:c.*338_*340del	ENSP00000506071.1:n.*338_*340del
ENST00000680528.1:n.752_754del
ENST00000680999.1:c.727_729del	ENSP00000504984.1:p.Glu243del
ENST00000681282.1:c.756_758del	ENSP00000506339.1:p.Arg253del
ENST00000333213.10:c.727_729del	ENSP00000327487.6:p.Glu243del
ENST00000578415.1:c.687_689del
ENST00000583173.5:c.459-199_459-197del	ENSP00000463619.1:n.459-199_459-197del
ENST00000583818.1:c.676_678del	ENSP00000461928.1:n.676_678del
NM_207346.2:c.727_729del	NP_997229.2:p.Glu243del
XM_005257229.2:c.727_729del	XP_005257286.1:p.Glu243del
XM_006721821.2:c.424_426del	XP_006721884.1:p.Glu142del
XM_011524616.1:c.727_729del	XP_011522918.1:p.Glu243del
XM_011524617.1:c.727_729del	XP_011522919.1:p.Glu243del
XM_011524618.1:c.727_729del	XP_011522920.1:p.Glu243del
XR_243646.2:n.757_759del
XM_005257229.4:c.727_729del	XP_005257286.1:p.Glu243del
XR_243646.4:n.763_765del
NM_207346.3:c.727_729del MANE Select	NP_997229.2:p.Glu243del