Canonical Allele Identifier: CA2275552546

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053475103

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524287dup , CM000679.2:g.75524287dup	GRCh38
NC_000017.10:g.73520368dup , CM000679.1:g.73520368dup	GRCh37
NC_000017.9:g.71031963dup	NCBI36
NG_013041.1:g.12760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1456dup MANE Select	ENSP00000327487.6:p.Cys486LeufsTer24
ENST00000434205.8:c.1153dup	ENSP00000406559.4:p.Cys385LeufsTer24
ENST00000545228.3:c.1644dup	ENSP00000438169.3:p.Ala549CysfsTer?
ENST00000577197.2:n.654dup
ENST00000579449.2:n.2196dup
ENST00000580013.6:n.2600dup
ENST00000679370.1:n.2978dup
ENST00000679429.1:c.*914dup	ENSP00000505403.1:n.*914dup
ENST00000679443.1:n.1525dup
ENST00000679782.1:c.*155dup	ENSP00000505995.1:n.*155dup
ENST00000679919.1:n.1727dup
ENST00000679928.1:c.*2008dup	ENSP00000506071.1:n.*2008dup
ENST00000680528.1:n.2422dup
ENST00000680999.1:c.1669dup	ENSP00000504984.1:p.Cys557LeufsTer24
ENST00000681282.1:c.*1643dup	ENSP00000506339.1:n.*1643dup
ENST00000333213.10:c.1456dup	ENSP00000327487.6:p.Cys486LeufsTer24
ENST00000545228.2:c.733dup
ENST00000577197.1:n.204dup
ENST00000579449.1:n.653dup
NM_207346.2:c.1456dup	NP_997229.2:p.Cys486LeufsTer24
XM_005257229.2:c.1644dup	XP_005257286.1:p.Ala549CysfsTer?
XM_006721821.2:c.1341dup	XP_006721884.1:p.Ala448CysfsTer?
XM_011524616.1:c.1527dup	XP_011522918.1:p.Ala510CysfsTer?
XM_011524617.1:c.*38dup	XP_011522919.1:n.*38dup
XM_011524618.1:c.1339dup	XP_011522920.1:p.Cys447LeufsTer24
XR_243646.2:n.1688dup
XM_005257229.4:c.1644dup	XP_005257286.1:p.Ala549CysfsTer?
XR_001753015.1:n.87+24dup
XR_001753016.1:n.88+24dup
XR_243646.4:n.1694dup
NM_207346.3:c.1456dup MANE Select	NP_997229.2:p.Cys486LeufsTer24