Canonical Allele Identifier: CA2810443804

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522012_75522013insAAA , CM000679.2:g.75522012_75522013insAAA	GRCh38
NC_000017.10:g.73518093_73518094insAAA , CM000679.1:g.73518093_73518094insAAA	GRCh37
NC_000017.9:g.71029688_71029689insAAA	NCBI36
NG_013041.1:g.10485_10486insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.931_932insAAA MANE Select	ENSP00000327487.6:p.Arg311delinsGlnSer
ENST00000434205.8:c.628_629insAAA	ENSP00000406559.4:p.Arg210delinsGlnSer
ENST00000545228.3:c.931_932insAAA	ENSP00000438169.3:p.Arg311delinsGlnSer
ENST00000579449.2:n.730_731insAAA
ENST00000580013.6:n.1134_1135insAAA
ENST00000679370.1:n.1512_1513insAAA
ENST00000679429.1:c.*389_*390insAAA	ENSP00000505403.1:n.*389_*390insAAA
ENST00000679443.1:n.1000_1001insAAA
ENST00000679782.1:c.931_932insAAA	ENSP00000505995.1:p.Arg311delinsGlnSer
ENST00000679919.1:n.1000_1001insAAA
ENST00000679928.1:c.*542_*543insAAA	ENSP00000506071.1:n.*542_*543insAAA
ENST00000680528.1:n.956_957insAAA
ENST00000680999.1:c.931_932insAAA	ENSP00000504984.1:p.Arg311delinsGlnSer
ENST00000681282.1:c.*177_*178insAAA	ENSP00000506339.1:n.*177_*178insAAA
ENST00000333213.10:c.931_932insAAA	ENSP00000327487.6:p.Arg311delinsGlnSer
ENST00000545228.2:c.20_21insAAA
ENST00000578415.1:c.891_892insAAA
ENST00000583173.5:c.464_465insAAA	ENSP00000463619.1:p.Pro155_Pro156insLys
NM_207346.2:c.931_932insAAA	NP_997229.2:p.Arg311delinsGlnSer
XM_005257229.2:c.931_932insAAA	XP_005257286.1:p.Arg311delinsGlnSer
XM_006721821.2:c.628_629insAAA	XP_006721884.1:p.Arg210delinsGlnSer
XM_011524616.1:c.931_932insAAA	XP_011522918.1:p.Arg311delinsGlnSer
XM_011524617.1:c.931_932insAAA	XP_011522919.1:p.Arg311delinsGlnSer
XM_011524618.1:c.931_932insAAA	XP_011522920.1:p.Arg311delinsGlnSer
XR_243646.2:n.961_962insAAA
XM_005257229.4:c.931_932insAAA	XP_005257286.1:p.Arg311delinsGlnSer
XR_243646.4:n.967_968insAAA
NM_207346.3:c.931_932insAAA MANE Select	NP_997229.2:p.Arg311delinsGlnSer