Canonical Allele Identifier: CA2639827609

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521827-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521830_75521831del , CM000679.2:g.75521830_75521831del	GRCh38
NC_000017.10:g.73517911_73517912del , CM000679.1:g.73517911_73517912del	GRCh37
NC_000017.9:g.71029506_71029507del	NCBI36
NG_013041.1:g.10303_10304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.749_750del MANE Select	ENSP00000327487.6:p.Pro250HisfsTer?
ENST00000434205.8:c.446_447del	ENSP00000406559.4:p.Pro149HisfsTer?
ENST00000545228.3:c.749_750del	ENSP00000438169.3:p.Pro250HisfsTer?
ENST00000579449.2:n.548_549del
ENST00000580013.6:n.952_953del
ENST00000583818.2:c.803_804del	ENSP00000461928.2:n.803_804del
ENST00000679370.1:n.1330_1331del
ENST00000679429.1:c.*207_*208del	ENSP00000505403.1:n.*207_*208del
ENST00000679443.1:n.818_819del
ENST00000679782.1:c.749_750del	ENSP00000505995.1:p.Pro250HisfsTer?
ENST00000679919.1:n.818_819del
ENST00000679928.1:c.*360_*361del	ENSP00000506071.1:n.*360_*361del
ENST00000680528.1:n.774_775del
ENST00000680999.1:c.749_750del	ENSP00000504984.1:p.Pro250HisfsTer?
ENST00000681282.1:c.778_779del	ENSP00000506339.1:p.Pro260MetfsTer?
ENST00000333213.10:c.749_750del	ENSP00000327487.6:p.Pro250HisfsTer?
ENST00000578415.1:c.709_710del
ENST00000583173.5:c.459-177_459-176del	ENSP00000463619.1:n.459-177_459-176del
ENST00000583818.1:c.698_699del	ENSP00000461928.1:n.698_699del
NM_207346.2:c.749_750del	NP_997229.2:p.Pro250HisfsTer?
XM_005257229.2:c.749_750del	XP_005257286.1:p.Pro250HisfsTer?
XM_006721821.2:c.446_447del	XP_006721884.1:p.Pro149HisfsTer?
XM_011524616.1:c.749_750del	XP_011522918.1:p.Pro250HisfsTer?
XM_011524617.1:c.749_750del	XP_011522919.1:p.Pro250HisfsTer?
XM_011524618.1:c.749_750del	XP_011522920.1:p.Pro250HisfsTer?
XR_243646.2:n.779_780del
XM_005257229.4:c.749_750del	XP_005257286.1:p.Pro250HisfsTer?
XR_243646.4:n.785_786del
NM_207346.3:c.749_750del MANE Select	NP_997229.2:p.Pro250HisfsTer?