Canonical Allele Identifier: CA2275551236

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521813_75521814delinsAC , CM000679.2:g.75521813_75521814delinsAC	GRCh38
NC_000017.10:g.73517894_73517895delinsAC , CM000679.1:g.73517894_73517895delinsAC	GRCh37
NC_000017.9:g.71029489_71029490delinsAC	NCBI36
NG_013041.1:g.10286_10287delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.732_733delinsAC MANE Select	ENSP00000327487.6:p.Lys244=
ENST00000434205.8:c.429_430delinsAC	ENSP00000406559.4:p.Lys143=
ENST00000545228.3:c.732_733delinsAC	ENSP00000438169.3:p.Lys244=
ENST00000579449.2:n.531_532delinsAC
ENST00000580013.6:n.935_936delinsAC
ENST00000583818.2:c.786_787delinsAC	ENSP00000461928.2:n.786_787delinsAC
ENST00000679370.1:n.1313_1314delinsAC
ENST00000679429.1:c.*190_*191delinsAC	ENSP00000505403.1:n.*190_*191delinsAC
ENST00000679443.1:n.801_802delinsAC
ENST00000679782.1:c.732_733delinsAC	ENSP00000505995.1:p.Lys244=
ENST00000679919.1:n.801_802delinsAC
ENST00000679928.1:c.*343_*344delinsAC	ENSP00000506071.1:n.*343_*344delinsAC
ENST00000680528.1:n.757_758delinsAC
ENST00000680999.1:c.732_733delinsAC	ENSP00000504984.1:p.Lys244=
ENST00000681282.1:c.761_762delinsAC	ENSP00000506339.1:p.Asn254=
ENST00000333213.10:c.732_733delinsAC	ENSP00000327487.6:p.Lys244=
ENST00000578415.1:c.692_693delinsAC
ENST00000583173.5:c.459-194_459-193delinsAC	ENSP00000463619.1:n.459-194_459-193delins...
ENST00000583818.1:c.681_682delinsAC	ENSP00000461928.1:n.681_682delinsAC
NM_207346.2:c.732_733delinsAC	NP_997229.2:p.Lys244=
XM_005257229.2:c.732_733delinsAC	XP_005257286.1:p.Lys244=
XM_006721821.2:c.429_430delinsAC	XP_006721884.1:p.Lys143=
XM_011524616.1:c.732_733delinsAC	XP_011522918.1:p.Lys244=
XM_011524617.1:c.732_733delinsAC	XP_011522919.1:p.Lys244=
XM_011524618.1:c.732_733delinsAC	XP_011522920.1:p.Lys244=
XR_243646.2:n.762_763delinsAC
XM_005257229.4:c.732_733delinsAC	XP_005257286.1:p.Lys244=
XR_243646.4:n.768_769delinsAC
NM_207346.3:c.732_733delinsAC MANE Select	NP_997229.2:p.Lys244=