Canonical Allele Identifier: CA2639827799

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521879-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521880del , CM000679.2:g.75521880del	GRCh38
NC_000017.10:g.73517961del , CM000679.1:g.73517961del	GRCh37
NC_000017.9:g.71029556del	NCBI36
NG_013041.1:g.10353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.799del MANE Select	ENSP00000327487.6:p.Ser267AlafsTer?
ENST00000434205.8:c.496del	ENSP00000406559.4:p.Ser166AlafsTer?
ENST00000545228.3:c.799del	ENSP00000438169.3:p.Ser267AlafsTer?
ENST00000579449.2:n.598del
ENST00000580013.6:n.1002del
ENST00000583818.2:c.853del	ENSP00000461928.2:n.853del
ENST00000679370.1:n.1380del
ENST00000679429.1:c.*257del	ENSP00000505403.1:n.*257del
ENST00000679443.1:n.868del
ENST00000679782.1:c.799del	ENSP00000505995.1:p.Ser267AlafsTer?
ENST00000679919.1:n.868del
ENST00000679928.1:c.*410del	ENSP00000506071.1:n.*410del
ENST00000680528.1:n.824del
ENST00000680999.1:c.799del	ENSP00000504984.1:p.Ser267AlafsTer?
ENST00000681282.1:c.*45del	ENSP00000506339.1:n.*45del
ENST00000333213.10:c.799del	ENSP00000327487.6:p.Ser267AlafsTer?
ENST00000578415.1:c.759del
ENST00000583173.5:c.459-127del	ENSP00000463619.1:n.459-127del
ENST00000583818.1:c.748del	ENSP00000461928.1:n.748del
NM_207346.2:c.799del	NP_997229.2:p.Ser267AlafsTer?
XM_005257229.2:c.799del	XP_005257286.1:p.Ser267AlafsTer?
XM_006721821.2:c.496del	XP_006721884.1:p.Ser166AlafsTer?
XM_011524616.1:c.799del	XP_011522918.1:p.Ser267AlafsTer?
XM_011524617.1:c.799del	XP_011522919.1:p.Ser267AlafsTer?
XM_011524618.1:c.799del	XP_011522920.1:p.Ser267AlafsTer?
XR_243646.2:n.829del
XM_005257229.4:c.799del	XP_005257286.1:p.Ser267AlafsTer?
XR_243646.4:n.835del
NM_207346.3:c.799del MANE Select	NP_997229.2:p.Ser267AlafsTer?