Canonical Allele Identifier: CA2639835961

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524352-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524354del , CM000679.2:g.75524354del	GRCh38
NC_000017.10:g.73520435del , CM000679.1:g.73520435del	GRCh37
NC_000017.9:g.71032030del	NCBI36
NG_013041.1:g.12827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1523del MANE Select	ENSP00000327487.6:p.Gly508ValfsTer?
ENST00000434205.8:c.1220del	ENSP00000406559.4:p.Gly407ValfsTer?
ENST00000545228.3:c.*22del	ENSP00000438169.3:n.*22del
ENST00000577197.2:n.721del
ENST00000579449.2:n.2263del
ENST00000580013.6:n.2667del
ENST00000679370.1:n.3045del
ENST00000679429.1:c.*981del	ENSP00000505403.1:n.*981del
ENST00000679443.1:n.1592del
ENST00000679782.1:c.*222del	ENSP00000505995.1:n.*222del
ENST00000679919.1:n.1794del
ENST00000679928.1:c.*2075del	ENSP00000506071.1:n.*2075del
ENST00000680528.1:n.2489del
ENST00000680999.1:c.1736del	ENSP00000504984.1:p.Gly579ValfsTer?
ENST00000681282.1:c.*1710del	ENSP00000506339.1:n.*1710del
ENST00000333213.10:c.1523del	ENSP00000327487.6:p.Gly508ValfsTer?
ENST00000545228.2:c.800del
ENST00000577197.1:n.271del
ENST00000579449.1:n.720del
NM_207346.2:c.1523del	NP_997229.2:p.Gly508ValfsTer?
XM_005257229.2:c.*22del	XP_005257286.1:n.*22del
XM_006721821.2:c.*22del	XP_006721884.1:n.*22del
XM_011524616.1:c.*22del	XP_011522918.1:n.*22del
XM_011524618.1:c.1406del	XP_011522920.1:p.Gly469ValfsTer?
XR_243646.2:n.1755del
XM_005257229.4:c.*22del	XP_005257286.1:n.*22del
XR_001753015.1:n.45del
XR_001753016.1:n.46del
XR_243646.4:n.1761del
NM_207346.3:c.1523del MANE Select	NP_997229.2:p.Gly508ValfsTer?