Canonical Allele Identifier: CA2639828087

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521944-T-TCACGGGAGCCGGTAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521946_75521961dup , CM000679.2:g.75521946_75521961dup	GRCh38
NC_000017.10:g.73518027_73518042dup , CM000679.1:g.73518027_73518042dup	GRCh37
NC_000017.9:g.71029622_71029637dup	NCBI36
NG_013041.1:g.10419_10434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.865_880dup MANE Select	ENSP00000327487.6:p.Arg294HisfsTer5
ENST00000434205.8:c.562_577dup	ENSP00000406559.4:p.Arg193HisfsTer5
ENST00000545228.3:c.865_880dup	ENSP00000438169.3:p.Arg294HisfsTer5
ENST00000579449.2:n.664_679dup
ENST00000580013.6:n.1068_1083dup
ENST00000679370.1:n.1446_1461dup
ENST00000679429.1:c.*323_*338dup	ENSP00000505403.1:n.*323_*338dup
ENST00000679443.1:n.934_949dup
ENST00000679782.1:c.865_880dup	ENSP00000505995.1:p.Arg294HisfsTer5
ENST00000679919.1:n.934_949dup
ENST00000679928.1:c.*476_*491dup	ENSP00000506071.1:n.*476_*491dup
ENST00000680528.1:n.890_905dup
ENST00000680999.1:c.865_880dup	ENSP00000504984.1:p.Arg294HisfsTer5
ENST00000681282.1:c.*111_*126dup	ENSP00000506339.1:n.*111_*126dup
ENST00000333213.10:c.865_880dup	ENSP00000327487.6:p.Arg294HisfsTer5
ENST00000578415.1:c.825_840dup
ENST00000583173.5:c.459-61_459-46dup	ENSP00000463619.1:n.459-61_459-46dup
NM_207346.2:c.865_880dup	NP_997229.2:p.Arg294HisfsTer5
XM_005257229.2:c.865_880dup	XP_005257286.1:p.Arg294HisfsTer5
XM_006721821.2:c.562_577dup	XP_006721884.1:p.Arg193HisfsTer5
XM_011524616.1:c.865_880dup	XP_011522918.1:p.Arg294HisfsTer5
XM_011524617.1:c.865_880dup	XP_011522919.1:p.Arg294HisfsTer5
XM_011524618.1:c.865_880dup	XP_011522920.1:p.Arg294HisfsTer5
XR_243646.2:n.895_910dup
XM_005257229.4:c.865_880dup	XP_005257286.1:p.Arg294HisfsTer5
XR_243646.4:n.901_916dup
NM_207346.3:c.865_880dup MANE Select	NP_997229.2:p.Arg294HisfsTer5