Canonical Allele Identifier: CA627594380

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522034del , CM000679.2:g.75522034del	GRCh38
NC_000017.10:g.73518115del , CM000679.1:g.73518115del	GRCh37
NC_000017.9:g.71029710del	NCBI36
NG_013041.1:g.10507del

Transcript Alleles

HGVS	Amino-acid Change
NM_207346.3:c.953del MANE Select	NP_997229.2:p.Pro318GlnfsTer24
ENST00000333213.11:c.953del MANE Select	ENSP00000327487.6:p.Pro318GlnfsTer24
NM_207346.2:c.953del	NP_997229.2:p.Pro318GlnfsTer24
ENST00000333213.10:c.953del	ENSP00000327487.6:p.Pro318GlnfsTer24
ENST00000434205.8:c.650del	ENSP00000406559.4:p.Pro217GlnfsTer24
ENST00000545228.2:c.42del
ENST00000545228.3:c.953del	ENSP00000438169.3:p.Pro318GlnfsTer24
ENST00000578415.1:c.913del
ENST00000579449.2:n.752del
ENST00000580013.6:n.1156del
ENST00000583173.5:c.486del	ENSP00000463619.1:p.Ser163AlafsTer?
ENST00000679370.1:n.1534del
ENST00000679429.1:c.*411del	ENSP00000505403.1:n.*411del
ENST00000679443.1:n.1022del
ENST00000679782.1:c.953del	ENSP00000505995.1:p.Pro318GlnfsTer24
ENST00000679919.1:n.1022del
ENST00000679928.1:c.*564del	ENSP00000506071.1:n.*564del
ENST00000680528.1:n.978del
ENST00000680999.1:c.953del	ENSP00000504984.1:p.Pro318GlnfsTer24
ENST00000681282.1:c.*199del	ENSP00000506339.1:n.*199del
XM_005257229.2:c.953del	XP_005257286.1:p.Pro318GlnfsTer24
XM_005257229.4:c.953del	XP_005257286.1:p.Pro318GlnfsTer24
XM_006721821.2:c.650del	XP_006721884.1:p.Pro217GlnfsTer24
XM_011524616.1:c.953del	XP_011522918.1:p.Pro318GlnfsTer24
XM_011524617.1:c.953del	XP_011522919.1:p.Pro318GlnfsTer24
XM_011524618.1:c.953del	XP_011522920.1:p.Pro318GlnfsTer24
XR_243646.2:n.983del
XR_243646.4:n.989del