Canonical Allele Identifier: CA2580095220

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2020232
• ClinVar RCV Id: RCV002852412
• gnomAD v4: 17-75524402-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524406dup , CM000679.2:g.75524406dup	GRCh38
NC_000017.10:g.73520487dup , CM000679.1:g.73520487dup	GRCh37
NC_000017.9:g.71032082dup	NCBI36
NG_013041.1:g.12879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1575dup MANE Select	ENSP00000327487.6:p.His526AlafsTer?
ENST00000434205.8:c.1272dup	ENSP00000406559.4:p.His425AlafsTer?
ENST00000545228.3:c.*74dup	ENSP00000438169.3:n.*74dup
ENST00000577197.2:n.773dup
ENST00000579449.2:n.2315dup
ENST00000580013.6:n.2719dup
ENST00000679370.1:n.3097dup
ENST00000679429.1:c.*1033dup	ENSP00000505403.1:n.*1033dup
ENST00000679443.1:n.1644dup
ENST00000679782.1:c.*274dup	ENSP00000505995.1:n.*274dup
ENST00000679919.1:n.1846dup
ENST00000679928.1:c.*2127dup	ENSP00000506071.1:n.*2127dup
ENST00000680528.1:n.2541dup
ENST00000680999.1:c.1788dup	ENSP00000504984.1:p.His597AlafsTer?
ENST00000681282.1:c.*1762dup	ENSP00000506339.1:n.*1762dup
ENST00000333213.10:c.1575dup	ENSP00000327487.6:p.His526AlafsTer?
ENST00000545228.2:c.852dup
ENST00000577197.1:n.323dup
ENST00000579449.1:n.772dup
NM_207346.2:c.1575dup	NP_997229.2:p.His526AlafsTer?
XM_005257229.2:c.*74dup	XP_005257286.1:n.*74dup
XM_006721821.2:c.*74dup	XP_006721884.1:n.*74dup
XM_011524616.1:c.*74dup	XP_011522918.1:n.*74dup
XM_011524618.1:c.1458dup	XP_011522920.1:p.His487AlafsTer?
XR_243646.2:n.1807dup
XM_005257229.4:c.*74dup	XP_005257286.1:n.*74dup
XR_243646.4:n.1813dup
NM_207346.3:c.1575dup MANE Select	NP_997229.2:p.His526AlafsTer?