Canonical Allele Identifier: CA2275551337

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521983_75521986delinsTCTC , CM000679.2:g.75521983_75521986delinsTCTC	GRCh38
NC_000017.10:g.73518064_73518067delinsTCTC , CM000679.1:g.73518064_73518067delinsTCTC	GRCh37
NC_000017.9:g.71029659_71029662delinsTCTC	NCBI36
NG_013041.1:g.10456_10459delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.902_905delinsTCTC MANE Select	ENSP00000327487.6:p.Ile301=
ENST00000434205.8:c.599_602delinsTCTC	ENSP00000406559.4:p.Ile200=
ENST00000545228.3:c.902_905delinsTCTC	ENSP00000438169.3:p.Ile301=
ENST00000579449.2:n.701_704delinsTCTC
ENST00000580013.6:n.1105_1108delinsTCTC
ENST00000679370.1:n.1483_1486delinsTCTC
ENST00000679429.1:c.*360_*363delinsTCTC	ENSP00000505403.1:n.*360_*363delinsTCTC
ENST00000679443.1:n.971_974delinsTCTC
ENST00000679782.1:c.902_905delinsTCTC	ENSP00000505995.1:p.Ile301=
ENST00000679919.1:n.971_974delinsTCTC
ENST00000679928.1:c.*513_*516delinsTCTC	ENSP00000506071.1:n.*513_*516delinsTCTC
ENST00000680528.1:n.927_930delinsTCTC
ENST00000680999.1:c.902_905delinsTCTC	ENSP00000504984.1:p.Ile301=
ENST00000681282.1:c.*148_*151delinsTCTC	ENSP00000506339.1:n.*148_*151delinsTCTC
ENST00000333213.10:c.902_905delinsTCTC	ENSP00000327487.6:p.Ile301=
ENST00000578415.1:c.862_865delinsTCTC
ENST00000583173.5:c.459-24_459-21delinsTCTC	ENSP00000463619.1:n.459-24_459-21delinsTCTC
NM_207346.2:c.902_905delinsTCTC	NP_997229.2:p.Ile301=
XM_005257229.2:c.902_905delinsTCTC	XP_005257286.1:p.Ile301=
XM_006721821.2:c.599_602delinsTCTC	XP_006721884.1:p.Ile200=
XM_011524616.1:c.902_905delinsTCTC	XP_011522918.1:p.Ile301=
XM_011524617.1:c.902_905delinsTCTC	XP_011522919.1:p.Ile301=
XM_011524618.1:c.902_905delinsTCTC	XP_011522920.1:p.Ile301=
XR_243646.2:n.932_935delinsTCTC
XM_005257229.4:c.902_905delinsTCTC	XP_005257286.1:p.Ile301=
XR_243646.4:n.938_941delinsTCTC
NM_207346.3:c.902_905delinsTCTC MANE Select	NP_997229.2:p.Ile301=