Canonical Allele Identifier: CA2571254218

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521731-T-TGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521733_75521770dup , CM000679.2:g.75521733_75521770dup	GRCh38
NC_000017.10:g.73517814_73517851dup , CM000679.1:g.73517814_73517851dup	GRCh37
NC_000017.9:g.71029409_71029446dup	NCBI36
NG_013041.1:g.10206_10243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.652_689dup MANE Select	ENSP00000327487.6:p.Ser230ArgfsTer35
ENST00000434205.8:c.349_386dup	ENSP00000406559.4:p.Ser129ArgfsTer35
ENST00000545228.3:c.652_689dup	ENSP00000438169.3:p.Ser230ArgfsTer35
ENST00000579449.2:n.451_488dup
ENST00000580013.6:n.855_892dup
ENST00000583818.2:c.706_743dup	ENSP00000461928.2:n.706_743dup
ENST00000679370.1:n.1233_1270dup
ENST00000679429.1:c.*110_*147dup	ENSP00000505403.1:n.*110_*147dup
ENST00000679443.1:n.721_758dup
ENST00000679782.1:c.652_689dup	ENSP00000505995.1:p.Ser230ArgfsTer35
ENST00000679919.1:n.721_758dup
ENST00000679928.1:c.*263_*300dup	ENSP00000506071.1:n.*263_*300dup
ENST00000680528.1:n.677_714dup
ENST00000680999.1:c.652_689dup	ENSP00000504984.1:p.Ser230ArgfsTer35
ENST00000681282.1:c.681_718dup	ENSP00000506339.1:p.Ala240GlyfsTer?
ENST00000333213.10:c.652_689dup	ENSP00000327487.6:p.Ser230ArgfsTer35
ENST00000578415.1:c.612_649dup
ENST00000583173.5:c.458+223_459-237dup	ENSP00000463619.1:n.458+223_459-237dup
ENST00000583818.1:c.601_638dup	ENSP00000461928.1:n.601_638dup
NM_207346.2:c.652_689dup	NP_997229.2:p.Ser230ArgfsTer35
XM_005257229.2:c.652_689dup	XP_005257286.1:p.Ser230ArgfsTer35
XM_006721821.2:c.349_386dup	XP_006721884.1:p.Ser129ArgfsTer35
XM_011524616.1:c.652_689dup	XP_011522918.1:p.Ser230ArgfsTer35
XM_011524617.1:c.652_689dup	XP_011522919.1:p.Ser230ArgfsTer35
XM_011524618.1:c.652_689dup	XP_011522920.1:p.Ser230ArgfsTer35
XR_243646.2:n.682_719dup
XM_005257229.4:c.652_689dup	XP_005257286.1:p.Ser230ArgfsTer35
XR_243646.4:n.688_725dup
NM_207346.3:c.652_689dup MANE Select	NP_997229.2:p.Ser230ArgfsTer35