Canonical Allele Identifier: CA2639828074

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521940-G-GGAGCTGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521943_75521944insCTGGGAGAG , CM000679.2:g.75521943_75521944insCTGGGAGAG	GRCh38
NC_000017.10:g.73518024_73518025insCTGGGAGAG , CM000679.1:g.73518024_73518025insCTGGGAGAG	GRCh37
NC_000017.9:g.71029619_71029620insCTGGGAGAG	NCBI36
NG_013041.1:g.10416_10417insCTGGGAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.862_863insCTGGGAGAG MANE Select	ENSP00000327487.6:p.Gly287_Val288insAlaGlyArg
ENST00000434205.8:c.559_560insCTGGGAGAG	ENSP00000406559.4:p.Gly186_Val187insAlaGlyArg
ENST00000545228.3:c.862_863insCTGGGAGAG	ENSP00000438169.3:p.Gly287_Val288insAlaGlyArg
ENST00000579449.2:n.661_662insCTGGGAGAG
ENST00000580013.6:n.1065_1066insCTGGGAGAG
ENST00000679370.1:n.1443_1444insCTGGGAGAG
ENST00000679429.1:c.*320_*321insCTGGGAGAG	ENSP00000505403.1:n.*320_*321insCTGGGAGAG
ENST00000679443.1:n.931_932insCTGGGAGAG
ENST00000679782.1:c.862_863insCTGGGAGAG	ENSP00000505995.1:p.Gly287_Val288insAlaGlyArg
ENST00000679919.1:n.931_932insCTGGGAGAG
ENST00000679928.1:c.*473_*474insCTGGGAGAG	ENSP00000506071.1:n.*473_*474insCTGGGAGAG
ENST00000680528.1:n.887_888insCTGGGAGAG
ENST00000680999.1:c.862_863insCTGGGAGAG	ENSP00000504984.1:p.Gly287_Val288insAlaGlyArg
ENST00000681282.1:c.*108_*109insCTGGGAGAG	ENSP00000506339.1:n.*108_*109insCTGGGAGAG
ENST00000333213.10:c.862_863insCTGGGAGAG	ENSP00000327487.6:p.Gly287_Val288insAlaGlyArg
ENST00000578415.1:c.822_823insCTGGGAGAG
ENST00000583173.5:c.459-64_459-63insCTGGGAGAG	ENSP00000463619.1:n.459-64_459-63insCTGGGAGAG
NM_207346.2:c.862_863insCTGGGAGAG	NP_997229.2:p.Gly287_Val288insAlaGlyArg
XM_005257229.2:c.862_863insCTGGGAGAG	XP_005257286.1:p.Gly287_Val288insAlaGlyArg
XM_006721821.2:c.559_560insCTGGGAGAG	XP_006721884.1:p.Gly186_Val187insAlaGlyArg
XM_011524616.1:c.862_863insCTGGGAGAG	XP_011522918.1:p.Gly287_Val288insAlaGlyArg
XM_011524617.1:c.862_863insCTGGGAGAG	XP_011522919.1:p.Gly287_Val288insAlaGlyArg
XM_011524618.1:c.862_863insCTGGGAGAG	XP_011522920.1:p.Gly287_Val288insAlaGlyArg
XR_243646.2:n.892_893insCTGGGAGAG
XM_005257229.4:c.862_863insCTGGGAGAG	XP_005257286.1:p.Gly287_Val288insAlaGlyArg
XR_243646.4:n.898_899insCTGGGAGAG
NM_207346.3:c.862_863insCTGGGAGAG MANE Select	NP_997229.2:p.Gly287_Val288insAlaGlyArg