Canonical Allele Identifier: CA2639828058

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521933-CGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521934_75521937del , CM000679.2:g.75521934_75521937del	GRCh38
NC_000017.10:g.73518015_73518018del , CM000679.1:g.73518015_73518018del	GRCh37
NC_000017.9:g.71029610_71029613del	NCBI36
NG_013041.1:g.10407_10410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.853_856del MANE Select	ENSP00000327487.6:p.Glu285ThrfsTer?
ENST00000434205.8:c.550_553del	ENSP00000406559.4:p.Glu184ThrfsTer?
ENST00000545228.3:c.853_856del	ENSP00000438169.3:p.Glu285ThrfsTer?
ENST00000579449.2:n.652_655del
ENST00000580013.6:n.1056_1059del
ENST00000679370.1:n.1434_1437del
ENST00000679429.1:c.*311_*314del	ENSP00000505403.1:n.*311_*314del
ENST00000679443.1:n.922_925del
ENST00000679782.1:c.853_856del	ENSP00000505995.1:p.Glu285ThrfsTer?
ENST00000679919.1:n.922_925del
ENST00000679928.1:c.*464_*467del	ENSP00000506071.1:n.*464_*467del
ENST00000680528.1:n.878_881del
ENST00000680999.1:c.853_856del	ENSP00000504984.1:p.Glu285ThrfsTer?
ENST00000681282.1:c.*99_*102del	ENSP00000506339.1:n.*99_*102del
ENST00000333213.10:c.853_856del	ENSP00000327487.6:p.Glu285ThrfsTer?
ENST00000578415.1:c.813_816del
ENST00000583173.5:c.459-73_459-70del	ENSP00000463619.1:n.459-73_459-70del
NM_207346.2:c.853_856del	NP_997229.2:p.Glu285ThrfsTer?
XM_005257229.2:c.853_856del	XP_005257286.1:p.Glu285ThrfsTer?
XM_006721821.2:c.550_553del	XP_006721884.1:p.Glu184ThrfsTer?
XM_011524616.1:c.853_856del	XP_011522918.1:p.Glu285ThrfsTer?
XM_011524617.1:c.853_856del	XP_011522919.1:p.Glu285ThrfsTer?
XM_011524618.1:c.853_856del	XP_011522920.1:p.Glu285ThrfsTer?
XR_243646.2:n.883_886del
XM_005257229.4:c.853_856del	XP_005257286.1:p.Glu285ThrfsTer?
XR_243646.4:n.889_892del
NM_207346.3:c.853_856del MANE Select	NP_997229.2:p.Glu285ThrfsTer?