Canonical Allele Identifier: CA173737

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 160136
• ClinVar RCV Id: RCV000147787
• dbSNP Id: rs587784479
• MyVariant Identifiers: chr17:g.73517543_73517544del (hg19) ; chr17:g.75521462_75521463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521462_75521463del , CM000679.2:g.75521462_75521463del	GRCh38
NC_000017.10:g.73517543_73517544del , CM000679.1:g.73517543_73517544del	GRCh37
NC_000017.9:g.71029138_71029139del	NCBI36
NG_013041.1:g.9935_9936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.575_576del MANE Select	ENSP00000327487.6:p.His192LeufsTer19
ENST00000434205.8:c.272_273del	ENSP00000406559.4:p.His91LeufsTer19
ENST00000545228.3:c.575_576del	ENSP00000438169.3:p.His192LeufsTer19
ENST00000579449.2:n.374_375del
ENST00000580013.6:n.584_585del
ENST00000583818.2:c.629_630del	ENSP00000461928.2:n.629_630del
ENST00000679370.1:n.962_963del
ENST00000679429.1:c.*33_*34del	ENSP00000505403.1:n.*33_*34del
ENST00000679443.1:n.450_451del
ENST00000679782.1:c.575_576del	ENSP00000505995.1:p.His192LeufsTer19
ENST00000679919.1:n.450_451del
ENST00000679928.1:c.*186_*187del	ENSP00000506071.1:n.*186_*187del
ENST00000680528.1:n.600_601del
ENST00000680999.1:c.575_576del	ENSP00000504984.1:p.His192LeufsTer19
ENST00000681282.1:c.575_576del	ENSP00000506339.1:p.His192LeufsTer?
ENST00000333213.10:c.575_576del	ENSP00000327487.6:p.His192LeufsTer19
ENST00000578415.1:c.535_536del
ENST00000583173.5:c.410_411del	ENSP00000463619.1:p.His137LeufsTer?
ENST00000583818.1:c.524_525del	ENSP00000461928.1:n.524_525del
NM_207346.2:c.575_576del	NP_997229.2:p.His192LeufsTer19
XM_005257229.2:c.575_576del	XP_005257286.1:p.His192LeufsTer19
XM_006721821.2:c.272_273del	XP_006721884.1:p.His91LeufsTer19
XM_011524616.1:c.575_576del	XP_011522918.1:p.His192LeufsTer19
XM_011524617.1:c.575_576del	XP_011522919.1:p.His192LeufsTer19
XM_011524618.1:c.575_576del	XP_011522920.1:p.His192LeufsTer19
XR_243646.2:n.605_606del
XM_005257229.4:c.575_576del	XP_005257286.1:p.His192LeufsTer19
XR_243646.4:n.611_612del
NM_207346.3:c.575_576del MANE Select	NP_997229.2:p.His192LeufsTer19