Canonical Allele Identifier: CA2275551357

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522018_75522019delinsAC , CM000679.2:g.75522018_75522019delinsAC	GRCh38
NC_000017.10:g.73518099_73518100delinsAC , CM000679.1:g.73518099_73518100delinsAC	GRCh37
NC_000017.9:g.71029694_71029695delinsAC	NCBI36
NG_013041.1:g.10491_10492delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.937_938delinsAC MANE Select	ENSP00000327487.6:p.Thr313=
ENST00000434205.8:c.634_635delinsAC	ENSP00000406559.4:p.Thr212=
ENST00000545228.3:c.937_938delinsAC	ENSP00000438169.3:p.Thr313=
ENST00000579449.2:n.736_737delinsAC
ENST00000580013.6:n.1140_1141delinsAC
ENST00000679370.1:n.1518_1519delinsAC
ENST00000679429.1:c.*395_*396delinsAC	ENSP00000505403.1:n.*395_*396delinsAC
ENST00000679443.1:n.1006_1007delinsAC
ENST00000679782.1:c.937_938delinsAC	ENSP00000505995.1:p.Thr313=
ENST00000679919.1:n.1006_1007delinsAC
ENST00000679928.1:c.*548_*549delinsAC	ENSP00000506071.1:n.*548_*549delinsAC
ENST00000680528.1:n.962_963delinsAC
ENST00000680999.1:c.937_938delinsAC	ENSP00000504984.1:p.Thr313=
ENST00000681282.1:c.*183_*184delinsAC	ENSP00000506339.1:n.*183_*184delinsAC
ENST00000333213.10:c.937_938delinsAC	ENSP00000327487.6:p.Thr313=
ENST00000545228.2:c.26_27delinsAC
ENST00000578415.1:c.897_898delinsAC
ENST00000583173.5:c.470_471delinsAC	ENSP00000463619.1:p.His157=
NM_207346.2:c.937_938delinsAC	NP_997229.2:p.Thr313=
XM_005257229.2:c.937_938delinsAC	XP_005257286.1:p.Thr313=
XM_006721821.2:c.634_635delinsAC	XP_006721884.1:p.Thr212=
XM_011524616.1:c.937_938delinsAC	XP_011522918.1:p.Thr313=
XM_011524617.1:c.937_938delinsAC	XP_011522919.1:p.Thr313=
XM_011524618.1:c.937_938delinsAC	XP_011522920.1:p.Thr313=
XR_243646.2:n.967_968delinsAC
XM_005257229.4:c.937_938delinsAC	XP_005257286.1:p.Thr313=
XR_243646.4:n.973_974delinsAC
NM_207346.3:c.937_938delinsAC MANE Select	NP_997229.2:p.Thr313=