Canonical Allele Identifier: CA2275551261

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521861_75521870delinsTCTGGGGTCC , CM000679.2:g.75521861_75521870delinsTCTGGGGTCC	GRCh38
NC_000017.10:g.73517942_73517951delinsTCTGGGGTCC , CM000679.1:g.73517942_73517951delinsTCTGGGGTCC	GRCh37
NC_000017.9:g.71029537_71029546delinsTCTGGGGTCC	NCBI36
NG_013041.1:g.10334_10343delinsTCTGGGGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.780_789delinsTCTGGGGTCC MANE Select	ENSP00000327487.6:p.Leu260=
ENST00000434205.8:c.477_486delinsTCTGGGGTCC	ENSP00000406559.4:p.Leu159=
ENST00000545228.3:c.780_789delinsTCTGGGGTCC	ENSP00000438169.3:p.Leu260=
ENST00000579449.2:n.579_588delinsTCTGGGGTCC
ENST00000580013.6:n.983_992delinsTCTGGGGTCC
ENST00000583818.2:c.834_843delinsTCTGGGGTCC	ENSP00000461928.2:n.834_843delinsTCTGGGGTCC
ENST00000679370.1:n.1361_1370delinsTCTGGGGTCC
ENST00000679429.1:c.*238_*247delinsTCTGGGGTCC	ENSP00000505403.1:n.*238_*247delinsTCTGGGGTCC
ENST00000679443.1:n.849_858delinsTCTGGGGTCC
ENST00000679782.1:c.780_789delinsTCTGGGGTCC	ENSP00000505995.1:p.Leu260=
ENST00000679919.1:n.849_858delinsTCTGGGGTCC
ENST00000679928.1:c.*391_*400delinsTCTGGGGTCC	ENSP00000506071.1:n.*391_*400delinsTCTGGGGTCC
ENST00000680528.1:n.805_814delinsTCTGGGGTCC
ENST00000680999.1:c.780_789delinsTCTGGGGTCC	ENSP00000504984.1:p.Leu260=
ENST00000681282.1:c.*26_*35delinsTCTGGGGTCC	ENSP00000506339.1:n.*26_*35delinsTCTGGGGTCC
ENST00000333213.10:c.780_789delinsTCTGGGGTCC	ENSP00000327487.6:p.Leu260=
ENST00000578415.1:c.740_749delinsTCTGGGGTCC
ENST00000583173.5:c.459-146_459-137delinsTCTGGGGTCC	ENSP00000463619.1:n.459-146_459-137delinsTCTGGGGTCC
ENST00000583818.1:c.729_738delinsTCTGGGGTCC	ENSP00000461928.1:n.729_738delinsTCTGGGGTCC
NM_207346.2:c.780_789delinsTCTGGGGTCC	NP_997229.2:p.Leu260=
XM_005257229.2:c.780_789delinsTCTGGGGTCC	XP_005257286.1:p.Leu260=
XM_006721821.2:c.477_486delinsTCTGGGGTCC	XP_006721884.1:p.Leu159=
XM_011524616.1:c.780_789delinsTCTGGGGTCC	XP_011522918.1:p.Leu260=
XM_011524617.1:c.780_789delinsTCTGGGGTCC	XP_011522919.1:p.Leu260=
XM_011524618.1:c.780_789delinsTCTGGGGTCC	XP_011522920.1:p.Leu260=
XR_243646.2:n.810_819delinsTCTGGGGTCC
XM_005257229.4:c.780_789delinsTCTGGGGTCC	XP_005257286.1:p.Leu260=
XR_243646.4:n.816_825delinsTCTGGGGTCC
NM_207346.3:c.780_789delinsTCTGGGGTCC MANE Select	NP_997229.2:p.Leu260=