Canonical Allele Identifier: CA775076675

Gene: TSEN54

Linked Data

• dbSNP Id: rs1271806752
• MyVariant Identifiers: chr17:g.73518001_73518002insTGCAGGTGGGGTGCAGCTG (hg19) ; chr17:g.75521920_75521921insTGCAGGTGGGGTGCAGCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521920_75521921insTGCAGGTGGGGTGCAGCTG , CM000679.2:g.75521920_75521921insTGCAGGTGGGGTGCAGCTG	GRCh38
NC_000017.10:g.73518001_73518002insTGCAGGTGGGGTGCAGCTG , CM000679.1:g.73518001_73518002insTGCAGGTGGGGTGCAGCTG	GRCh37
NC_000017.9:g.71029596_71029597insTGCAGGTGGGGTGCAGCTG	NCBI36
NG_013041.1:g.10393_10394insTGCAGGTGGGGTGCAGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.839_840insTGCAGGTGGGGTGCAGCTG MANE Select	ENSP00000327487.6:p.Glu280AspfsTer20
ENST00000434205.8:c.536_537insTGCAGGTGGGGTGCAGCTG	ENSP00000406559.4:p.Glu179AspfsTer20
ENST00000545228.3:c.839_840insTGCAGGTGGGGTGCAGCTG	ENSP00000438169.3:p.Glu280AspfsTer20
ENST00000579449.2:n.638_639insTGCAGGTGGGGTGCAGCTG
ENST00000580013.6:n.1042_1043insTGCAGGTGGGGTGCAGCTG
ENST00000679370.1:n.1420_1421insTGCAGGTGGGGTGCAGCTG
ENST00000679429.1:c.*297_*298insTGCAGGTGGGGTGCAGCTG	ENSP00000505403.1:n.*297_*298insTGCAGGTGGGGTGCAGCTG
ENST00000679443.1:n.908_909insTGCAGGTGGGGTGCAGCTG
ENST00000679782.1:c.839_840insTGCAGGTGGGGTGCAGCTG	ENSP00000505995.1:p.Glu280AspfsTer20
ENST00000679919.1:n.908_909insTGCAGGTGGGGTGCAGCTG
ENST00000679928.1:c.*450_*451insTGCAGGTGGGGTGCAGCTG	ENSP00000506071.1:n.*450_*451insTGCAGGTGGGGTGCAGCTG
ENST00000680528.1:n.864_865insTGCAGGTGGGGTGCAGCTG
ENST00000680999.1:c.839_840insTGCAGGTGGGGTGCAGCTG	ENSP00000504984.1:p.Glu280AspfsTer20
ENST00000681282.1:c.*85_*86insTGCAGGTGGGGTGCAGCTG	ENSP00000506339.1:n.*85_*86insTGCAGGTGGGGTGCAGCTG
ENST00000333213.10:c.839_840insTGCAGGTGGGGTGCAGCTG	ENSP00000327487.6:p.Glu280AspfsTer20
ENST00000578415.1:c.799_800insTGCAGGTGGGGTGCAGCTG
ENST00000583173.5:c.459-87_459-86insTGCAGGTGGGGTGCAGCTG	ENSP00000463619.1:n.459-87_459-86insTGCAGGTGGGGTGCAGCTG
NM_207346.2:c.839_840insTGCAGGTGGGGTGCAGCTG	NP_997229.2:p.Glu280AspfsTer20
XM_005257229.2:c.839_840insTGCAGGTGGGGTGCAGCTG	XP_005257286.1:p.Glu280AspfsTer20
XM_006721821.2:c.536_537insTGCAGGTGGGGTGCAGCTG	XP_006721884.1:p.Glu179AspfsTer20
XM_011524616.1:c.839_840insTGCAGGTGGGGTGCAGCTG	XP_011522918.1:p.Glu280AspfsTer20
XM_011524617.1:c.839_840insTGCAGGTGGGGTGCAGCTG	XP_011522919.1:p.Glu280AspfsTer20
XM_011524618.1:c.839_840insTGCAGGTGGGGTGCAGCTG	XP_011522920.1:p.Glu280AspfsTer20
XR_243646.2:n.869_870insTGCAGGTGGGGTGCAGCTG
XM_005257229.4:c.839_840insTGCAGGTGGGGTGCAGCTG	XP_005257286.1:p.Glu280AspfsTer20
XR_243646.4:n.875_876insTGCAGGTGGGGTGCAGCTG
NM_207346.3:c.839_840insTGCAGGTGGGGTGCAGCTG MANE Select	NP_997229.2:p.Glu280AspfsTer20