Canonical Allele Identifier: CA2639835865

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524322-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524323dup , CM000679.2:g.75524323dup	GRCh38
NC_000017.10:g.73520404dup , CM000679.1:g.73520404dup	GRCh37
NC_000017.9:g.71031999dup	NCBI36
NG_013041.1:g.12796dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1492dup MANE Select	ENSP00000327487.6:p.Val498GlyfsTer12
ENST00000434205.8:c.1189dup	ENSP00000406559.4:p.Val397GlyfsTer12
ENST00000545228.3:c.1680dup	ENSP00000438169.3:p.Ser561ValfsTer30
ENST00000577197.2:n.690dup
ENST00000579449.2:n.2232dup
ENST00000580013.6:n.2636dup
ENST00000679370.1:n.3014dup
ENST00000679429.1:c.*950dup	ENSP00000505403.1:n.*950dup
ENST00000679443.1:n.1561dup
ENST00000679782.1:c.*191dup	ENSP00000505995.1:n.*191dup
ENST00000679919.1:n.1763dup
ENST00000679928.1:c.*2044dup	ENSP00000506071.1:n.*2044dup
ENST00000680528.1:n.2458dup
ENST00000680999.1:c.1705dup	ENSP00000504984.1:p.Val569GlyfsTer12
ENST00000681282.1:c.*1679dup	ENSP00000506339.1:n.*1679dup
ENST00000333213.10:c.1492dup	ENSP00000327487.6:p.Val498GlyfsTer12
ENST00000545228.2:c.769dup
ENST00000577197.1:n.240dup
ENST00000579449.1:n.689dup
NM_207346.2:c.1492dup	NP_997229.2:p.Val498GlyfsTer12
XM_005257229.2:c.1680dup	XP_005257286.1:p.Ser561ValfsTer30
XM_006721821.2:c.1377dup	XP_006721884.1:p.Ser460ValfsTer30
XM_011524616.1:c.1563dup	XP_011522918.1:p.Ser522ValfsTer30
XM_011524617.1:c.*74dup	XP_011522919.1:n.*74dup
XM_011524618.1:c.1375dup	XP_011522920.1:p.Val459GlyfsTer12
XR_243646.2:n.1724dup
XM_005257229.4:c.1680dup	XP_005257286.1:p.Ser561ValfsTer30
XR_001753015.1:n.75dup
XR_001753016.1:n.76dup
XR_243646.4:n.1730dup
NM_207346.3:c.1492dup MANE Select	NP_997229.2:p.Val498GlyfsTer12