Canonical Allele Identifier: CA502045727

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2747640
• ClinVar RCV Id: RCV003570556
• dbSNP Id: rs1432605158
• gnomAD v2: 17-73517569-AAG-A
• MyVariant Identifiers: chr17:g.73517570_73517571del (hg19) ; chr17:g.75521489_75521490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521491_75521492del , CM000679.2:g.75521491_75521492del	GRCh38
NC_000017.10:g.73517572_73517573del , CM000679.1:g.73517572_73517573del	GRCh37
NC_000017.9:g.71029167_71029168del	NCBI36
NG_013041.1:g.9964_9965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.604_605del MANE Select	ENSP00000327487.6:p.Arg202GlufsTer9
ENST00000434205.8:c.301_302del	ENSP00000406559.4:p.Arg101GlufsTer9
ENST00000545228.3:c.604_605del	ENSP00000438169.3:p.Arg202GlufsTer9
ENST00000579449.2:n.403_404del
ENST00000580013.6:n.613_614del
ENST00000583818.2:c.658_659del	ENSP00000461928.2:n.658_659del
ENST00000679370.1:n.991_992del
ENST00000679429.1:c.*62_*63del	ENSP00000505403.1:n.*62_*63del
ENST00000679443.1:n.479_480del
ENST00000679782.1:c.604_605del	ENSP00000505995.1:p.Arg202GlufsTer9
ENST00000679919.1:n.479_480del
ENST00000679928.1:c.*215_*216del	ENSP00000506071.1:n.*215_*216del
ENST00000680528.1:n.629_630del
ENST00000680999.1:c.604_605del	ENSP00000504984.1:p.Arg202GlufsTer9
ENST00000681282.1:c.604_605del	ENSP00000506339.1:p.Arg202GlufsTer?
ENST00000333213.10:c.604_605del	ENSP00000327487.6:p.Arg202GlufsTer9
ENST00000578415.1:c.564_565del
ENST00000583173.5:c.439_440del	ENSP00000463619.1:p.Arg147GlufsTer?
ENST00000583818.1:c.553_554del	ENSP00000461928.1:n.553_554del
NM_207346.2:c.604_605del	NP_997229.2:p.Arg202GlufsTer9
XM_005257229.2:c.604_605del	XP_005257286.1:p.Arg202GlufsTer9
XM_006721821.2:c.301_302del	XP_006721884.1:p.Arg101GlufsTer9
XM_011524616.1:c.604_605del	XP_011522918.1:p.Arg202GlufsTer9
XM_011524617.1:c.604_605del	XP_011522919.1:p.Arg202GlufsTer9
XM_011524618.1:c.604_605del	XP_011522920.1:p.Arg202GlufsTer9
XR_243646.2:n.634_635del
XM_005257229.4:c.604_605del	XP_005257286.1:p.Arg202GlufsTer9
XR_243646.4:n.640_641del
NM_207346.3:c.604_605del MANE Select	NP_997229.2:p.Arg202GlufsTer9