Canonical Allele Identifier: CA2639822594

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516805-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516809dup , CM000679.2:g.75516809dup	GRCh38
NC_000017.10:g.73512890dup , CM000679.1:g.73512890dup	GRCh37
NC_000017.9:g.71024485dup	NCBI36
NG_013041.1:g.5282dup
NG_033152.1:g.3778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.120dup MANE Select	ENSP00000327487.6:p.Lys41GlnfsTer?
ENST00000434205.8:c.-82-200dup	ENSP00000406559.4:n.-82-200dup
ENST00000545228.3:c.120dup	ENSP00000438169.3:p.Lys41GlnfsTer?
ENST00000579449.2:n.20+193dup
ENST00000580013.6:n.129dup
ENST00000583818.2:c.120dup	ENSP00000461928.2:p.Lys41GlnfsTer?
ENST00000679370.1:n.507dup
ENST00000679429.1:c.120dup	ENSP00000505403.1:p.Lys41GlnfsTer?
ENST00000679782.1:c.120dup	ENSP00000505995.1:p.Lys41GlnfsTer?
ENST00000679928.1:c.120dup	ENSP00000506071.1:p.Lys41GlnfsTer?
ENST00000680528.1:n.145dup
ENST00000680999.1:c.120dup	ENSP00000504984.1:p.Lys41GlnfsTer?
ENST00000681282.1:c.120dup	ENSP00000506339.1:p.Lys41GlnfsTer?
ENST00000333213.10:c.120dup	ENSP00000327487.6:p.Lys41GlnfsTer?
ENST00000434205.7:c.-82-200dup	ENSP00000406559.3:n.-82-200dup
ENST00000580013.5:n.145dup
ENST00000583173.5:c.56+193dup	ENSP00000463619.1:n.56+193dup
ENST00000583454.1:n.155dup
ENST00000583818.1:c.15dup	ENSP00000461928.1:p.Lys6GlnfsTer?
NM_207346.2:c.120dup	NP_997229.2:p.Lys41GlnfsTer?
XM_005257229.2:c.120dup	XP_005257286.1:p.Lys41GlnfsTer?
XM_006721821.2:c.-184dup	XP_006721884.1:n.-184dup
XM_011524616.1:c.120dup	XP_011522918.1:p.Lys41GlnfsTer?
XM_011524617.1:c.120dup	XP_011522919.1:p.Lys41GlnfsTer?
XM_011524618.1:c.120dup	XP_011522920.1:p.Lys41GlnfsTer?
XR_243646.2:n.150dup
XM_005257229.4:c.120dup	XP_005257286.1:p.Lys41GlnfsTer?
XR_243646.4:n.156dup
NM_207346.3:c.120dup MANE Select	NP_997229.2:p.Lys41GlnfsTer?