Canonical Allele Identifier: CA294079094

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521927_75521937del , CM000679.2:g.75521927_75521937del	GRCh38
NC_000017.10:g.73518008_73518018del , CM000679.1:g.73518008_73518018del	GRCh37
NC_000017.9:g.71029603_71029613del	NCBI36
NG_013041.1:g.10400_10410del

Transcript Alleles

HGVS	Amino-acid Change
NM_207346.3:c.846_856del MANE Select	NP_997229.2:p.Ala284SerfsTer6
ENST00000333213.11:c.846_856del MANE Select	ENSP00000327487.6:p.Ala284SerfsTer6
NM_207346.2:c.846_856del	NP_997229.2:p.Ala284SerfsTer6
ENST00000333213.10:c.846_856del	ENSP00000327487.6:p.Ala284SerfsTer6
ENST00000434205.8:c.543_553del	ENSP00000406559.4:p.Ala183SerfsTer6
ENST00000545228.3:c.846_856del	ENSP00000438169.3:p.Ala284SerfsTer6
ENST00000578415.1:c.806_816del
ENST00000579449.2:n.645_655del
ENST00000580013.6:n.1049_1059del
ENST00000583173.5:c.459-80_459-70del	ENSP00000463619.1:n.459-80_459-70del
ENST00000679370.1:n.1427_1437del
ENST00000679429.1:c.*304_*314del	ENSP00000505403.1:n.*304_*314del
ENST00000679443.1:n.915_925del
ENST00000679782.1:c.846_856del	ENSP00000505995.1:p.Ala284SerfsTer6
ENST00000679919.1:n.915_925del
ENST00000679928.1:c.*457_*467del	ENSP00000506071.1:n.*457_*467del
ENST00000680528.1:n.871_881del
ENST00000680999.1:c.846_856del	ENSP00000504984.1:p.Ala284SerfsTer6
ENST00000681282.1:c.*92_*102del	ENSP00000506339.1:n.*92_*102del
XM_005257229.2:c.846_856del	XP_005257286.1:p.Ala284SerfsTer6
XM_005257229.4:c.846_856del	XP_005257286.1:p.Ala284SerfsTer6
XM_006721821.2:c.543_553del	XP_006721884.1:p.Ala183SerfsTer6
XM_011524616.1:c.846_856del	XP_011522918.1:p.Ala284SerfsTer6
XM_011524617.1:c.846_856del	XP_011522919.1:p.Ala284SerfsTer6
XM_011524618.1:c.846_856del	XP_011522920.1:p.Ala284SerfsTer6
XR_243646.2:n.876_886del
XR_243646.4:n.882_892del