Canonical Allele Identifier: CA8764206

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1957365
• ClinVar RCV Id: RCV002706248
• dbSNP Id: rs747549006
• ExAC: 17:73517546 T / TG
• gnomAD v2: 17-73517546-T-TG
• gnomAD v4: 17-75521465-T-TG
• MyVariant Identifiers: chr17:g.73517546_73517547insG (hg19) ; chr17:g.75521465_75521466insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521467dup , CM000679.2:g.75521467dup	GRCh38
NC_000017.10:g.73517548dup , CM000679.1:g.73517548dup	GRCh37
NC_000017.9:g.71029143dup	NCBI36
NG_013041.1:g.9940dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.580dup MANE Select	ENSP00000327487.6:p.Glu194GlyfsTer18
ENST00000434205.8:c.277dup	ENSP00000406559.4:p.Glu93GlyfsTer18
ENST00000545228.3:c.580dup	ENSP00000438169.3:p.Glu194GlyfsTer18
ENST00000579449.2:n.379dup
ENST00000580013.6:n.589dup
ENST00000583818.2:c.634dup	ENSP00000461928.2:n.634dup
ENST00000679370.1:n.967dup
ENST00000679429.1:c.*38dup	ENSP00000505403.1:n.*38dup
ENST00000679443.1:n.455dup
ENST00000679782.1:c.580dup	ENSP00000505995.1:p.Glu194GlyfsTer18
ENST00000679919.1:n.455dup
ENST00000679928.1:c.*191dup	ENSP00000506071.1:n.*191dup
ENST00000680528.1:n.605dup
ENST00000680999.1:c.580dup	ENSP00000504984.1:p.Glu194GlyfsTer18
ENST00000681282.1:c.580dup	ENSP00000506339.1:p.Glu194GlyfsTer?
ENST00000333213.10:c.580dup	ENSP00000327487.6:p.Glu194GlyfsTer18
ENST00000578415.1:c.540dup
ENST00000583173.5:c.415dup	ENSP00000463619.1:p.Glu139GlyfsTer?
ENST00000583818.1:c.529dup	ENSP00000461928.1:n.529dup
NM_207346.2:c.580dup	NP_997229.2:p.Glu194GlyfsTer18
XM_005257229.2:c.580dup	XP_005257286.1:p.Glu194GlyfsTer18
XM_006721821.2:c.277dup	XP_006721884.1:p.Glu93GlyfsTer18
XM_011524616.1:c.580dup	XP_011522918.1:p.Glu194GlyfsTer18
XM_011524617.1:c.580dup	XP_011522919.1:p.Glu194GlyfsTer18
XM_011524618.1:c.580dup	XP_011522920.1:p.Glu194GlyfsTer18
XR_243646.2:n.610dup
XM_005257229.4:c.580dup	XP_005257286.1:p.Glu194GlyfsTer18
XR_243646.4:n.616dup
NM_207346.3:c.580dup MANE Select	NP_997229.2:p.Glu194GlyfsTer18