Canonical Allele Identifier: CA2275552393

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523936_75523937delinsGT , CM000679.2:g.75523936_75523937delinsGT	GRCh38
NC_000017.10:g.73520017_73520018delinsGT , CM000679.1:g.73520017_73520018delinsGT	GRCh37
NC_000017.9:g.71031612_71031613delinsGT	NCBI36
NG_013041.1:g.12409_12410delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1430+157_1430+158delinsGT MANE Select	ENSP00000327487.6:n.1430+157_1430+158delinsGT
ENST00000434205.8:c.1127+157_1127+158delinsGT	ENSP00000406559.4:n.1127+157_1127+158delinsGT
ENST00000545228.3:c.1618+157_1618+158delinsGT	ENSP00000438169.3:n.1618+157_1618+158delinsGT
ENST00000577197.2:n.628+157_628+158delinsGT
ENST00000579449.2:n.2170+157_2170+158delinsGT
ENST00000580013.6:n.2574+157_2574+158delinsGT
ENST00000679370.1:n.2952+157_2952+158delinsGT
ENST00000679429.1:c.*888+157_*888+158delinsGT	ENSP00000505403.1:n.*888+157_*888+158delinsGT
ENST00000679443.1:n.1499+157_1499+158delinsGT
ENST00000679782.1:c.*129+157_*129+158delinsGT	ENSP00000505995.1:n.*129+157_*129+158delinsGT
ENST00000679919.1:n.1701+157_1701+158delinsGT
ENST00000679928.1:c.*1982+157_*1982+158delinsGT	ENSP00000506071.1:n.*1982+157_*1982+158delinsGT
ENST00000680528.1:n.2396+157_2396+158delinsGT
ENST00000680999.1:c.1643+157_1643+158delinsGT	ENSP00000504984.1:n.1643+157_1643+158delinsGT
ENST00000681282.1:c.*1617+157_*1617+158delinsGT	ENSP00000506339.1:n.*1617+157_*1617+158delinsGT
ENST00000333213.10:c.1430+157_1430+158delinsGT	ENSP00000327487.6:n.1430+157_1430+158delinsGT
ENST00000545228.2:c.707+157_707+158delinsGT
ENST00000577197.1:n.178+157_178+158delinsGT
ENST00000579449.1:n.627+157_627+158delinsGT
NM_207346.2:c.1430+157_1430+158delinsGT	NP_997229.2:n.1430+157_1430+158delinsGT
XM_005257229.2:c.1618+157_1618+158delinsGT	XP_005257286.1:n.1618+157_1618+158delinsGT
XM_006721821.2:c.1315+157_1315+158delinsGT	XP_006721884.1:n.1315+157_1315+158delinsGT
XM_011524616.1:c.1502-326_1502-325delinsGT	XP_011522918.1:n.1502-326_1502-325delinsGT
XM_011524617.1:c.*13-326_*13-325delinsGT	XP_011522919.1:n.*13-326_*13-325delinsGT
XM_011524618.1:c.1314-326_1314-325delinsGT	XP_011522920.1:n.1314-326_1314-325delinsGT
XR_243646.2:n.1662+157_1662+158delinsGT
XM_005257229.4:c.1618+157_1618+158delinsGT	XP_005257286.1:n.1618+157_1618+158delinsGT
XR_001753015.1:n.87+374_87+375delinsAC
XR_001753016.1:n.88+374_88+375delinsAC
XR_243646.4:n.1668+157_1668+158delinsGT
NM_207346.3:c.1430+157_1430+158delinsGT MANE Select	NP_997229.2:n.1430+157_1430+158delinsGT