Canonical Allele Identifier: CA2275552402

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523955_75523956delinsGA , CM000679.2:g.75523955_75523956delinsGA	GRCh38
NC_000017.10:g.73520036_73520037delinsGA , CM000679.1:g.73520036_73520037delinsGA	GRCh37
NC_000017.9:g.71031631_71031632delinsGA	NCBI36
NG_013041.1:g.12428_12429delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1430+176_1430+177delinsGA MANE Select	ENSP00000327487.6:n.1430+176_1430+177delinsGA
ENST00000434205.8:c.1127+176_1127+177delinsGA	ENSP00000406559.4:n.1127+176_1127+177delinsGA
ENST00000545228.3:c.1618+176_1618+177delinsGA	ENSP00000438169.3:n.1618+176_1618+177delinsGA
ENST00000577197.2:n.628+176_628+177delinsGA
ENST00000579449.2:n.2170+176_2170+177delinsGA
ENST00000580013.6:n.2574+176_2574+177delinsGA
ENST00000679370.1:n.2952+176_2952+177delinsGA
ENST00000679429.1:c.*888+176_*888+177delinsGA	ENSP00000505403.1:n.*888+176_*888+177delinsGA
ENST00000679443.1:n.1499+176_1499+177delinsGA
ENST00000679782.1:c.*129+176_*129+177delinsGA	ENSP00000505995.1:n.*129+176_*129+177delinsGA
ENST00000679919.1:n.1701+176_1701+177delinsGA
ENST00000679928.1:c.*1982+176_*1982+177delinsGA	ENSP00000506071.1:n.*1982+176_*1982+177delinsGA
ENST00000680528.1:n.2396+176_2396+177delinsGA
ENST00000680999.1:c.1643+176_1643+177delinsGA	ENSP00000504984.1:n.1643+176_1643+177delinsGA
ENST00000681282.1:c.*1617+176_*1617+177delinsGA	ENSP00000506339.1:n.*1617+176_*1617+177delinsGA
ENST00000333213.10:c.1430+176_1430+177delinsGA	ENSP00000327487.6:n.1430+176_1430+177delinsGA
ENST00000545228.2:c.707+176_707+177delinsGA
ENST00000577197.1:n.178+176_178+177delinsGA
ENST00000579449.1:n.627+176_627+177delinsGA
NM_207346.2:c.1430+176_1430+177delinsGA	NP_997229.2:n.1430+176_1430+177delinsGA
XM_005257229.2:c.1618+176_1618+177delinsGA	XP_005257286.1:n.1618+176_1618+177delinsGA
XM_006721821.2:c.1315+176_1315+177delinsGA	XP_006721884.1:n.1315+176_1315+177delinsGA
XM_011524616.1:c.1502-307_1502-306delinsGA	XP_011522918.1:n.1502-307_1502-306delinsGA
XM_011524617.1:c.*13-307_*13-306delinsGA	XP_011522919.1:n.*13-307_*13-306delinsGA
XM_011524618.1:c.1314-307_1314-306delinsGA	XP_011522920.1:n.1314-307_1314-306delinsGA
XR_243646.2:n.1662+176_1662+177delinsGA
XM_005257229.4:c.1618+176_1618+177delinsGA	XP_005257286.1:n.1618+176_1618+177delinsGA
XR_001753015.1:n.87+355_87+356delinsTC
XR_001753016.1:n.88+355_88+356delinsTC
XR_243646.4:n.1668+176_1668+177delinsGA
NM_207346.3:c.1430+176_1430+177delinsGA MANE Select	NP_997229.2:n.1430+176_1430+177delinsGA