Canonical Allele Identifier: CA2275551298

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521918_75521920delinsGGA , CM000679.2:g.75521918_75521920delinsGGA	GRCh38
NC_000017.10:g.73517999_73518001delinsGGA , CM000679.1:g.73517999_73518001delinsGGA	GRCh37
NC_000017.9:g.71029594_71029596delinsGGA	NCBI36
NG_013041.1:g.10391_10393delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.837_839delinsGGA MANE Select	ENSP00000327487.6:p.Trp279=
ENST00000434205.8:c.534_536delinsGGA	ENSP00000406559.4:p.Trp178=
ENST00000545228.3:c.837_839delinsGGA	ENSP00000438169.3:p.Trp279=
ENST00000579449.2:n.636_638delinsGGA
ENST00000580013.6:n.1040_1042delinsGGA
ENST00000679370.1:n.1418_1420delinsGGA
ENST00000679429.1:c.*295_*297delinsGGA	ENSP00000505403.1:n.*295_*297delinsGGA
ENST00000679443.1:n.906_908delinsGGA
ENST00000679782.1:c.837_839delinsGGA	ENSP00000505995.1:p.Trp279=
ENST00000679919.1:n.906_908delinsGGA
ENST00000679928.1:c.*448_*450delinsGGA	ENSP00000506071.1:n.*448_*450delinsGGA
ENST00000680528.1:n.862_864delinsGGA
ENST00000680999.1:c.837_839delinsGGA	ENSP00000504984.1:p.Trp279=
ENST00000681282.1:c.*83_*85delinsGGA	ENSP00000506339.1:n.*83_*85delinsGGA
ENST00000333213.10:c.837_839delinsGGA	ENSP00000327487.6:p.Trp279=
ENST00000578415.1:c.797_799delinsGGA
ENST00000583173.5:c.459-89_459-87delinsGGA	ENSP00000463619.1:n.459-89_459-87delinsGGA
NM_207346.2:c.837_839delinsGGA	NP_997229.2:p.Trp279=
XM_005257229.2:c.837_839delinsGGA	XP_005257286.1:p.Trp279=
XM_006721821.2:c.534_536delinsGGA	XP_006721884.1:p.Trp178=
XM_011524616.1:c.837_839delinsGGA	XP_011522918.1:p.Trp279=
XM_011524617.1:c.837_839delinsGGA	XP_011522919.1:p.Trp279=
XM_011524618.1:c.837_839delinsGGA	XP_011522920.1:p.Trp279=
XR_243646.2:n.867_869delinsGGA
XM_005257229.4:c.837_839delinsGGA	XP_005257286.1:p.Trp279=
XR_243646.4:n.873_875delinsGGA
NM_207346.3:c.837_839delinsGGA MANE Select	NP_997229.2:p.Trp279=