Canonical Allele Identifier: CA2576388856

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521755-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521757_75521758del , CM000679.2:g.75521757_75521758del	GRCh38
NC_000017.10:g.73517838_73517839del , CM000679.1:g.73517838_73517839del	GRCh37
NC_000017.9:g.71029433_71029434del	NCBI36
NG_013041.1:g.10230_10231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.676_677del MANE Select	ENSP00000327487.6:p.Leu226GlyfsTer?
ENST00000434205.8:c.373_374del	ENSP00000406559.4:p.Leu125GlyfsTer?
ENST00000545228.3:c.676_677del	ENSP00000438169.3:p.Leu226GlyfsTer?
ENST00000579449.2:n.475_476del
ENST00000580013.6:n.879_880del
ENST00000583818.2:c.730_731del	ENSP00000461928.2:n.730_731del
ENST00000679370.1:n.1257_1258del
ENST00000679429.1:c.*134_*135del	ENSP00000505403.1:n.*134_*135del
ENST00000679443.1:n.745_746del
ENST00000679782.1:c.676_677del	ENSP00000505995.1:p.Leu226GlyfsTer?
ENST00000679919.1:n.745_746del
ENST00000679928.1:c.*287_*288del	ENSP00000506071.1:n.*287_*288del
ENST00000680528.1:n.701_702del
ENST00000680999.1:c.676_677del	ENSP00000504984.1:p.Leu226GlyfsTer?
ENST00000681282.1:c.705_706del	ENSP00000506339.1:p.Trp236AlafsTer?
ENST00000333213.10:c.676_677del	ENSP00000327487.6:p.Leu226GlyfsTer?
ENST00000578415.1:c.636_637del
ENST00000583173.5:c.458+247_459-249del	ENSP00000463619.1:n.458+247_459-249del
ENST00000583818.1:c.625_626del	ENSP00000461928.1:n.625_626del
NM_207346.2:c.676_677del	NP_997229.2:p.Leu226GlyfsTer?
XM_005257229.2:c.676_677del	XP_005257286.1:p.Leu226GlyfsTer?
XM_006721821.2:c.373_374del	XP_006721884.1:p.Leu125GlyfsTer?
XM_011524616.1:c.676_677del	XP_011522918.1:p.Leu226GlyfsTer?
XM_011524617.1:c.676_677del	XP_011522919.1:p.Leu226GlyfsTer?
XM_011524618.1:c.676_677del	XP_011522920.1:p.Leu226GlyfsTer?
XR_243646.2:n.706_707del
XM_005257229.4:c.676_677del	XP_005257286.1:p.Leu226GlyfsTer?
XR_243646.4:n.712_713del
NM_207346.3:c.676_677del MANE Select	NP_997229.2:p.Leu226GlyfsTer?