Canonical Allele Identifier: CA2576388884

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521898_75521899insC , CM000679.2:g.75521898_75521899insC	GRCh38
NC_000017.10:g.73517979_73517980insC , CM000679.1:g.73517979_73517980insC	GRCh37
NC_000017.9:g.71029574_71029575insC	NCBI36
NG_013041.1:g.10371_10372insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.817_818insC MANE Select	ENSP00000327487.6:p.Glu273AlafsTer21
ENST00000434205.8:c.514_515insC	ENSP00000406559.4:p.Glu172AlafsTer21
ENST00000545228.3:c.817_818insC	ENSP00000438169.3:p.Glu273AlafsTer21
ENST00000579449.2:n.616_617insC
ENST00000580013.6:n.1020_1021insC
ENST00000679370.1:n.1398_1399insC
ENST00000679429.1:c.*275_*276insC	ENSP00000505403.1:n.*275_*276insC
ENST00000679443.1:n.886_887insC
ENST00000679782.1:c.817_818insC	ENSP00000505995.1:p.Glu273AlafsTer21
ENST00000679919.1:n.886_887insC
ENST00000679928.1:c.*428_*429insC	ENSP00000506071.1:n.*428_*429insC
ENST00000680528.1:n.842_843insC
ENST00000680999.1:c.817_818insC	ENSP00000504984.1:p.Glu273AlafsTer21
ENST00000681282.1:c.*63_*64insC	ENSP00000506339.1:n.*63_*64insC
ENST00000333213.10:c.817_818insC	ENSP00000327487.6:p.Glu273AlafsTer21
ENST00000578415.1:c.777_778insC
ENST00000583173.5:c.459-109_459-108insC	ENSP00000463619.1:n.459-109_459-108insC
NM_207346.2:c.817_818insC	NP_997229.2:p.Glu273AlafsTer21
XM_005257229.2:c.817_818insC	XP_005257286.1:p.Glu273AlafsTer21
XM_006721821.2:c.514_515insC	XP_006721884.1:p.Glu172AlafsTer21
XM_011524616.1:c.817_818insC	XP_011522918.1:p.Glu273AlafsTer21
XM_011524617.1:c.817_818insC	XP_011522919.1:p.Glu273AlafsTer21
XM_011524618.1:c.817_818insC	XP_011522920.1:p.Glu273AlafsTer21
XR_243646.2:n.847_848insC
XM_005257229.4:c.817_818insC	XP_005257286.1:p.Glu273AlafsTer21
XR_243646.4:n.853_854insC
NM_207346.3:c.817_818insC MANE Select	NP_997229.2:p.Glu273AlafsTer21