Canonical Allele Identifier: CA2275551294

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521915_75521923delinsCTGGGAGAG , CM000679.2:g.75521915_75521923delinsCTGGGAGAG	GRCh38
NC_000017.10:g.73517996_73518004delinsCTGGGAGAG , CM000679.1:g.73517996_73518004delinsCTGGGAGAG	GRCh37
NC_000017.9:g.71029591_71029599delinsCTGGGAGAG	NCBI36
NG_013041.1:g.10388_10396delinsCTGGGAGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.834_842delinsCTGGGAGAG MANE Select	ENSP00000327487.6:p.Ser278=
ENST00000434205.8:c.531_539delinsCTGGGAGAG	ENSP00000406559.4:p.Ser177=
ENST00000545228.3:c.834_842delinsCTGGGAGAG	ENSP00000438169.3:p.Ser278=
ENST00000579449.2:n.633_641delinsCTGGGAGAG
ENST00000580013.6:n.1037_1045delinsCTGGGAGAG
ENST00000679370.1:n.1415_1423delinsCTGGGAGAG
ENST00000679429.1:c.*292_*300delinsCTGGGAGAG	ENSP00000505403.1:n.*292_*300delinsCTGGGA...
ENST00000679443.1:n.903_911delinsCTGGGAGAG
ENST00000679782.1:c.834_842delinsCTGGGAGAG	ENSP00000505995.1:p.Ser278=
ENST00000679919.1:n.903_911delinsCTGGGAGAG
ENST00000679928.1:c.*445_*453delinsCTGGGAGAG	ENSP00000506071.1:n.*445_*453delinsCTGGGA...
ENST00000680528.1:n.859_867delinsCTGGGAGAG
ENST00000680999.1:c.834_842delinsCTGGGAGAG	ENSP00000504984.1:p.Ser278=
ENST00000681282.1:c.*80_*88delinsCTGGGAGAG	ENSP00000506339.1:n.*80_*88delinsCTGGGAGA...
ENST00000333213.10:c.834_842delinsCTGGGAGAG	ENSP00000327487.6:p.Ser278=
ENST00000578415.1:c.794_802delinsCTGGGAGAG
ENST00000583173.5:c.459-92_459-84delinsCTGGGAGAG	ENSP00000463619.1:n.459-92_459-84delinsCT...
NM_207346.2:c.834_842delinsCTGGGAGAG	NP_997229.2:p.Ser278=
XM_005257229.2:c.834_842delinsCTGGGAGAG	XP_005257286.1:p.Ser278=
XM_006721821.2:c.531_539delinsCTGGGAGAG	XP_006721884.1:p.Ser177=
XM_011524616.1:c.834_842delinsCTGGGAGAG	XP_011522918.1:p.Ser278=
XM_011524617.1:c.834_842delinsCTGGGAGAG	XP_011522919.1:p.Ser278=
XM_011524618.1:c.834_842delinsCTGGGAGAG	XP_011522920.1:p.Ser278=
XR_243646.2:n.864_872delinsCTGGGAGAG
XM_005257229.4:c.834_842delinsCTGGGAGAG	XP_005257286.1:p.Ser278=
XR_243646.4:n.870_878delinsCTGGGAGAG
NM_207346.3:c.834_842delinsCTGGGAGAG MANE Select	NP_997229.2:p.Ser278=