Canonical Allele Identifier: CA2576388802

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521423del , CM000679.2:g.75521423del	GRCh38
NC_000017.10:g.73517504del , CM000679.1:g.73517504del	GRCh37
NC_000017.9:g.71029099del	NCBI36
NG_013041.1:g.9896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.536del MANE Select	ENSP00000327487.6:p.Pro179ArgfsTer?
ENST00000434205.8:c.233del	ENSP00000406559.4:p.Pro78ArgfsTer?
ENST00000545228.3:c.536del	ENSP00000438169.3:p.Pro179ArgfsTer?
ENST00000579449.2:n.335del
ENST00000580013.6:n.545del
ENST00000583818.2:c.590del	ENSP00000461928.2:n.590del
ENST00000679370.1:n.923del
ENST00000679429.1:c.528del	ENSP00000505403.1:p.Val177TyrfsTer?
ENST00000679443.1:n.411del
ENST00000679782.1:c.536del	ENSP00000505995.1:p.Pro179ArgfsTer?
ENST00000679919.1:n.411del
ENST00000679928.1:c.*147del	ENSP00000506071.1:n.*147del
ENST00000680528.1:n.561del
ENST00000680999.1:c.536del	ENSP00000504984.1:p.Pro179ArgfsTer?
ENST00000681282.1:c.536del	ENSP00000506339.1:p.Pro179ArgfsTer?
ENST00000333213.10:c.536del	ENSP00000327487.6:p.Pro179ArgfsTer?
ENST00000578415.1:c.496del
ENST00000580013.5:n.553del
ENST00000583173.5:c.371del	ENSP00000463619.1:p.Pro124ArgfsTer?
ENST00000583818.1:c.485del	ENSP00000461928.1:n.485del
NM_207346.2:c.536del	NP_997229.2:p.Pro179ArgfsTer?
XM_005257229.2:c.536del	XP_005257286.1:p.Pro179ArgfsTer?
XM_006721821.2:c.233del	XP_006721884.1:p.Pro78ArgfsTer?
XM_011524616.1:c.536del	XP_011522918.1:p.Pro179ArgfsTer?
XM_011524617.1:c.536del	XP_011522919.1:p.Pro179ArgfsTer?
XM_011524618.1:c.536del	XP_011522920.1:p.Pro179ArgfsTer?
XR_243646.2:n.566del
XM_005257229.4:c.536del	XP_005257286.1:p.Pro179ArgfsTer?
XR_243646.4:n.572del
NM_207346.3:c.536del MANE Select	NP_997229.2:p.Pro179ArgfsTer?