Canonical Allele Identifier: CA913013743

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73518019_73518020insCGGAGTCACGGGAGCCGGTAAG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521942_75521963dup , CM000679.2:g.75521942_75521963dup	GRCh38
NC_000017.10:g.73518023_73518044dup , CM000679.1:g.73518023_73518044dup	GRCh37
NC_000017.9:g.71029618_71029639dup	NCBI36
NG_013041.1:g.10415_10436dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.861_882dup MANE Select	ENSP00000327487.6:p.Arg295SerfsTer6
ENST00000434205.8:c.558_579dup	ENSP00000406559.4:p.Arg194SerfsTer6
ENST00000545228.3:c.861_882dup	ENSP00000438169.3:p.Arg295SerfsTer6
ENST00000579449.2:n.660_681dup
ENST00000580013.6:n.1064_1085dup
ENST00000679370.1:n.1442_1463dup
ENST00000679429.1:c.*319_*340dup	ENSP00000505403.1:n.*319_*340dup
ENST00000679443.1:n.930_951dup
ENST00000679782.1:c.861_882dup	ENSP00000505995.1:p.Arg295SerfsTer6
ENST00000679919.1:n.930_951dup
ENST00000679928.1:c.*472_*493dup	ENSP00000506071.1:n.*472_*493dup
ENST00000680528.1:n.886_907dup
ENST00000680999.1:c.861_882dup	ENSP00000504984.1:p.Arg295SerfsTer6
ENST00000681282.1:c.*107_*128dup	ENSP00000506339.1:n.*107_*128dup
ENST00000333213.10:c.861_882dup	ENSP00000327487.6:p.Arg295SerfsTer6
ENST00000578415.1:c.821_842dup
ENST00000583173.5:c.459-65_459-44dup	ENSP00000463619.1:n.459-65_459-44dup
NM_207346.2:c.861_882dup	NP_997229.2:p.Arg295SerfsTer6
XM_005257229.2:c.861_882dup	XP_005257286.1:p.Arg295SerfsTer6
XM_006721821.2:c.558_579dup	XP_006721884.1:p.Arg194SerfsTer6
XM_011524616.1:c.861_882dup	XP_011522918.1:p.Arg295SerfsTer6
XM_011524617.1:c.861_882dup	XP_011522919.1:p.Arg295SerfsTer6
XM_011524618.1:c.861_882dup	XP_011522920.1:p.Arg295SerfsTer6
XR_243646.2:n.891_912dup
XM_005257229.4:c.861_882dup	XP_005257286.1:p.Arg295SerfsTer6
XR_243646.4:n.897_918dup
NM_207346.3:c.861_882dup MANE Select	NP_997229.2:p.Arg295SerfsTer6