Canonical Allele Identifier: CA2639835436

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75523903-AGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523904_75523906del , CM000679.2:g.75523904_75523906del	GRCh38
NC_000017.10:g.73519985_73519987del , CM000679.1:g.73519985_73519987del	GRCh37
NC_000017.9:g.71031580_71031582del	NCBI36
NG_013041.1:g.12377_12379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1430+125_1430+127del MANE Select	ENSP00000327487.6:n.1430+125_1430+127del
ENST00000434205.8:c.1127+125_1127+127del	ENSP00000406559.4:n.1127+125_1127+127del
ENST00000545228.3:c.1618+125_1618+127del	ENSP00000438169.3:n.1618+125_1618+127del
ENST00000577197.2:n.628+125_628+127del
ENST00000579449.2:n.2170+125_2170+127del
ENST00000580013.6:n.2574+125_2574+127del
ENST00000679370.1:n.2952+125_2952+127del
ENST00000679429.1:c.*888+125_*888+127del	ENSP00000505403.1:n.*888+125_*888+127del
ENST00000679443.1:n.1499+125_1499+127del
ENST00000679782.1:c.*129+125_*129+127del	ENSP00000505995.1:n.*129+125_*129+127del
ENST00000679919.1:n.1701+125_1701+127del
ENST00000679928.1:c.*1982+125_*1982+127del	ENSP00000506071.1:n.*1982+125_*1982+127del
ENST00000680528.1:n.2396+125_2396+127del
ENST00000680999.1:c.1643+125_1643+127del	ENSP00000504984.1:n.1643+125_1643+127del
ENST00000681282.1:c.*1617+125_*1617+127del	ENSP00000506339.1:n.*1617+125_*1617+127del
ENST00000333213.10:c.1430+125_1430+127del	ENSP00000327487.6:n.1430+125_1430+127del
ENST00000545228.2:c.707+125_707+127del
ENST00000577197.1:n.178+125_178+127del
ENST00000579449.1:n.627+125_627+127del
NM_207346.2:c.1430+125_1430+127del	NP_997229.2:n.1430+125_1430+127del
XM_005257229.2:c.1618+125_1618+127del	XP_005257286.1:n.1618+125_1618+127del
XM_006721821.2:c.1315+125_1315+127del	XP_006721884.1:n.1315+125_1315+127del
XM_011524616.1:c.1502-358_1502-356del	XP_011522918.1:n.1502-358_1502-356del
XM_011524617.1:c.*13-358_*13-356del	XP_011522919.1:n.*13-358_*13-356del
XM_011524618.1:c.1314-358_1314-356del	XP_011522920.1:n.1314-358_1314-356del
XR_243646.2:n.1662+125_1662+127del
XM_005257229.4:c.1618+125_1618+127del	XP_005257286.1:n.1618+125_1618+127del
XR_001753015.1:n.87+405_87+407del
XR_001753016.1:n.88+405_88+407del
XR_243646.4:n.1668+125_1668+127del
NM_207346.3:c.1430+125_1430+127del MANE Select	NP_997229.2:n.1430+125_1430+127del