Canonical Allele Identifier: CA627594362

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2804488
• ClinVar RCV Id: RCV003684092
• dbSNP Id: rs1386935097
• gnomAD v2: 17-73518028-C-CG
• gnomAD v4: 17-75521947-C-CG
• MyVariant Identifiers: chr17:g.73518028_73518029insG (hg19) ; chr17:g.75521947_75521948insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521950dup , CM000679.2:g.75521950dup	GRCh38
NC_000017.10:g.73518031dup , CM000679.1:g.73518031dup	GRCh37
NC_000017.9:g.71029626dup	NCBI36
NG_013041.1:g.10423dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.869dup MANE Select	ENSP00000327487.6:p.Ala291SerfsTer3
ENST00000434205.8:c.566dup	ENSP00000406559.4:p.Ala190SerfsTer3
ENST00000545228.3:c.869dup	ENSP00000438169.3:p.Ala291SerfsTer3
ENST00000579449.2:n.668dup
ENST00000580013.6:n.1072dup
ENST00000679370.1:n.1450dup
ENST00000679429.1:c.*327dup	ENSP00000505403.1:n.*327dup
ENST00000679443.1:n.938dup
ENST00000679782.1:c.869dup	ENSP00000505995.1:p.Ala291SerfsTer3
ENST00000679919.1:n.938dup
ENST00000679928.1:c.*480dup	ENSP00000506071.1:n.*480dup
ENST00000680528.1:n.894dup
ENST00000680999.1:c.869dup	ENSP00000504984.1:p.Ala291SerfsTer3
ENST00000681282.1:c.*115dup	ENSP00000506339.1:n.*115dup
ENST00000333213.10:c.869dup	ENSP00000327487.6:p.Ala291SerfsTer3
ENST00000578415.1:c.829dup
ENST00000583173.5:c.459-57dup	ENSP00000463619.1:n.459-57dup
NM_207346.2:c.869dup	NP_997229.2:p.Ala291SerfsTer3
XM_005257229.2:c.869dup	XP_005257286.1:p.Ala291SerfsTer3
XM_006721821.2:c.566dup	XP_006721884.1:p.Ala190SerfsTer3
XM_011524616.1:c.869dup	XP_011522918.1:p.Ala291SerfsTer3
XM_011524617.1:c.869dup	XP_011522919.1:p.Ala291SerfsTer3
XM_011524618.1:c.869dup	XP_011522920.1:p.Ala291SerfsTer3
XR_243646.2:n.899dup
XM_005257229.4:c.869dup	XP_005257286.1:p.Ala291SerfsTer3
XR_243646.4:n.905dup
NM_207346.3:c.869dup MANE Select	NP_997229.2:p.Ala291SerfsTer3