Canonical Allele Identifier: CA2810433059

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522014_75522015insAAA , CM000679.2:g.75522014_75522015insAAA	GRCh38
NC_000017.10:g.73518095_73518096insAAA , CM000679.1:g.73518095_73518096insAAA	GRCh37
NC_000017.9:g.71029690_71029691insAAA	NCBI36
NG_013041.1:g.10487_10488insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.933_934insAAA MANE Select	ENSP00000327487.6:p.Arg311_His312insLys
ENST00000434205.8:c.630_631insAAA	ENSP00000406559.4:p.Arg210_His211insLys
ENST00000545228.3:c.933_934insAAA	ENSP00000438169.3:p.Arg311_His312insLys
ENST00000579449.2:n.732_733insAAA
ENST00000580013.6:n.1136_1137insAAA
ENST00000679370.1:n.1514_1515insAAA
ENST00000679429.1:c.*391_*392insAAA	ENSP00000505403.1:n.*391_*392insAAA
ENST00000679443.1:n.1002_1003insAAA
ENST00000679782.1:c.933_934insAAA	ENSP00000505995.1:p.Arg311_His312insLys
ENST00000679919.1:n.1002_1003insAAA
ENST00000679928.1:c.*544_*545insAAA	ENSP00000506071.1:n.*544_*545insAAA
ENST00000680528.1:n.958_959insAAA
ENST00000680999.1:c.933_934insAAA	ENSP00000504984.1:p.Arg311_His312insLys
ENST00000681282.1:c.*179_*180insAAA	ENSP00000506339.1:n.*179_*180insAAA
ENST00000333213.10:c.933_934insAAA	ENSP00000327487.6:p.Arg311_His312insLys
ENST00000545228.2:c.22_23insAAA
ENST00000578415.1:c.893_894insAAA
ENST00000583173.5:c.466_467insAAA	ENSP00000463619.1:p.Pro156delinsGlnThr
NM_207346.2:c.933_934insAAA	NP_997229.2:p.Arg311_His312insLys
XM_005257229.2:c.933_934insAAA	XP_005257286.1:p.Arg311_His312insLys
XM_006721821.2:c.630_631insAAA	XP_006721884.1:p.Arg210_His211insLys
XM_011524616.1:c.933_934insAAA	XP_011522918.1:p.Arg311_His312insLys
XM_011524617.1:c.933_934insAAA	XP_011522919.1:p.Arg311_His312insLys
XM_011524618.1:c.933_934insAAA	XP_011522920.1:p.Arg311_His312insLys
XR_243646.2:n.963_964insAAA
XM_005257229.4:c.933_934insAAA	XP_005257286.1:p.Arg311_His312insLys
XR_243646.4:n.969_970insAAA
NM_207346.3:c.933_934insAAA MANE Select	NP_997229.2:p.Arg311_His312insLys