Canonical Allele Identifier: CA2734203059

Gene: TSEN54

Linked Data

• dbSNP Id: rs2147012972

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521714_75521716del , CM000679.2:g.75521714_75521716del	GRCh38
NC_000017.10:g.73517795_73517797del , CM000679.1:g.73517795_73517797del	GRCh37
NC_000017.9:g.71029390_71029392del	NCBI36
NG_013041.1:g.10187_10189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.633_635del MANE Select	ENSP00000327487.6:p.Asn211del
ENST00000434205.8:c.330_332del	ENSP00000406559.4:p.Asn110del
ENST00000545228.3:c.633_635del	ENSP00000438169.3:p.Asn211del
ENST00000579449.2:n.432_434del
ENST00000580013.6:n.836_838del
ENST00000583818.2:c.687_689del	ENSP00000461928.2:n.687_689del
ENST00000679370.1:n.1214_1216del
ENST00000679429.1:c.*91_*93del	ENSP00000505403.1:n.*91_*93del
ENST00000679443.1:n.702_704del
ENST00000679782.1:c.633_635del	ENSP00000505995.1:p.Asn211del
ENST00000679919.1:n.702_704del
ENST00000679928.1:c.*244_*246del	ENSP00000506071.1:n.*244_*246del
ENST00000680528.1:n.658_660del
ENST00000680999.1:c.633_635del	ENSP00000504984.1:p.Asn211del
ENST00000681282.1:c.662_664del	ENSP00000506339.1:p.Ile221del
ENST00000333213.10:c.633_635del	ENSP00000327487.6:p.Asn211del
ENST00000578415.1:c.593_595del
ENST00000583173.5:c.458+204_458+206del	ENSP00000463619.1:n.458+204_458+206del
ENST00000583818.1:c.582_584del	ENSP00000461928.1:n.582_584del
NM_207346.2:c.633_635del	NP_997229.2:p.Asn211del
XM_005257229.2:c.633_635del	XP_005257286.1:p.Asn211del
XM_006721821.2:c.330_332del	XP_006721884.1:p.Asn110del
XM_011524616.1:c.633_635del	XP_011522918.1:p.Asn211del
XM_011524617.1:c.633_635del	XP_011522919.1:p.Asn211del
XM_011524618.1:c.633_635del	XP_011522920.1:p.Asn211del
XR_243646.2:n.663_665del
XM_005257229.4:c.633_635del	XP_005257286.1:p.Asn211del
XR_243646.4:n.669_671del
NM_207346.3:c.633_635del MANE Select	NP_997229.2:p.Asn211del