Canonical Allele Identifier: CA2275551390

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522061_75522066delinsTGGCTG , CM000679.2:g.75522061_75522066delinsTGGCTG	GRCh38
NC_000017.10:g.73518142_73518147delinsTGGCTG , CM000679.1:g.73518142_73518147delinsTGGCTG	GRCh37
NC_000017.9:g.71029737_71029742delinsTGGCTG	NCBI36
NG_013041.1:g.10534_10539delinsTGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.980_985delinsTGGCTG MANE Select	ENSP00000327487.6:p.Val327=
ENST00000434205.8:c.677_682delinsTGGCTG	ENSP00000406559.4:p.Val226=
ENST00000545228.3:c.980_985delinsTGGCTG	ENSP00000438169.3:p.Val327=
ENST00000579449.2:n.779_784delinsTGGCTG
ENST00000580013.6:n.1183_1188delinsTGGCTG
ENST00000679370.1:n.1561_1566delinsTGGCTG
ENST00000679429.1:c.*438_*443delinsTGGCTG	ENSP00000505403.1:n.*438_*443delinsTGGCTG
ENST00000679443.1:n.1049_1054delinsTGGCTG
ENST00000679782.1:c.980_985delinsTGGCTG	ENSP00000505995.1:p.Val327=
ENST00000679919.1:n.1049_1054delinsTGGCTG
ENST00000679928.1:c.*591_*596delinsTGGCTG	ENSP00000506071.1:n.*591_*596delinsTGGCTG
ENST00000680528.1:n.1005_1010delinsTGGCTG
ENST00000680999.1:c.980_985delinsTGGCTG	ENSP00000504984.1:p.Val327=
ENST00000681282.1:c.*226_*231delinsTGGCTG	ENSP00000506339.1:n.*226_*231delinsTGGCTG
ENST00000333213.10:c.980_985delinsTGGCTG	ENSP00000327487.6:p.Val327=
ENST00000545228.2:c.69_74delinsTGGCTG
ENST00000578415.1:c.940_945delinsTGGCTG
ENST00000583173.5:c.513_518delinsTGGCTG	ENSP00000463619.1:p.Arg171=
NM_207346.2:c.980_985delinsTGGCTG	NP_997229.2:p.Val327=
XM_005257229.2:c.980_985delinsTGGCTG	XP_005257286.1:p.Val327=
XM_006721821.2:c.677_682delinsTGGCTG	XP_006721884.1:p.Val226=
XM_011524616.1:c.980_985delinsTGGCTG	XP_011522918.1:p.Val327=
XM_011524617.1:c.980_985delinsTGGCTG	XP_011522919.1:p.Val327=
XM_011524618.1:c.980_985delinsTGGCTG	XP_011522920.1:p.Val327=
XR_243646.2:n.1010_1015delinsTGGCTG
XM_005257229.4:c.980_985delinsTGGCTG	XP_005257286.1:p.Val327=
XR_243646.4:n.1016_1021delinsTGGCTG
NM_207346.3:c.980_985delinsTGGCTG MANE Select	NP_997229.2:p.Val327=