Canonical Allele Identifier: CA2639827801

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521879-CAGCCCTGGCCCGGCCAGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521882_75521900del , CM000679.2:g.75521882_75521900del	GRCh38
NC_000017.10:g.73517963_73517981del , CM000679.1:g.73517963_73517981del	GRCh37
NC_000017.9:g.71029558_71029576del	NCBI36
NG_013041.1:g.10355_10373del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.801_819del MANE Select	ENSP00000327487.6:p.Ser267ArgfsTer?
ENST00000434205.8:c.498_516del	ENSP00000406559.4:p.Ser166ArgfsTer?
ENST00000545228.3:c.801_819del	ENSP00000438169.3:p.Ser267ArgfsTer?
ENST00000579449.2:n.600_618del
ENST00000580013.6:n.1004_1022del
ENST00000679370.1:n.1382_1400del
ENST00000679429.1:c.*259_*277del	ENSP00000505403.1:n.*259_*277del
ENST00000679443.1:n.870_888del
ENST00000679782.1:c.801_819del	ENSP00000505995.1:p.Ser267ArgfsTer?
ENST00000679919.1:n.870_888del
ENST00000679928.1:c.*412_*430del	ENSP00000506071.1:n.*412_*430del
ENST00000680528.1:n.826_844del
ENST00000680999.1:c.801_819del	ENSP00000504984.1:p.Ser267ArgfsTer?
ENST00000681282.1:c.*47_*65del	ENSP00000506339.1:n.*47_*65del
ENST00000333213.10:c.801_819del	ENSP00000327487.6:p.Ser267ArgfsTer?
ENST00000578415.1:c.761_779del
ENST00000583173.5:c.459-125_459-107del	ENSP00000463619.1:n.459-125_459-107del
NM_207346.2:c.801_819del	NP_997229.2:p.Ser267ArgfsTer?
XM_005257229.2:c.801_819del	XP_005257286.1:p.Ser267ArgfsTer?
XM_006721821.2:c.498_516del	XP_006721884.1:p.Ser166ArgfsTer?
XM_011524616.1:c.801_819del	XP_011522918.1:p.Ser267ArgfsTer?
XM_011524617.1:c.801_819del	XP_011522919.1:p.Ser267ArgfsTer?
XM_011524618.1:c.801_819del	XP_011522920.1:p.Ser267ArgfsTer?
XR_243646.2:n.831_849del
XM_005257229.4:c.801_819del	XP_005257286.1:p.Ser267ArgfsTer?
XR_243646.4:n.837_855del
NM_207346.3:c.801_819del MANE Select	NP_997229.2:p.Ser267ArgfsTer?