Canonical Allele Identifier: CA2598230695

Gene: TSEN54

Linked Data

• dbSNP Id: rs2147017797
• gnomAD v3: 17-75523957-GCTC-G
• gnomAD v4: 17-75523957-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523961_75523963del , CM000679.2:g.75523961_75523963del	GRCh38
NC_000017.10:g.73520042_73520044del , CM000679.1:g.73520042_73520044del	GRCh37
NC_000017.9:g.71031637_71031639del	NCBI36
NG_013041.1:g.12434_12436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1430+182_1430+184del MANE Select	ENSP00000327487.6:n.1430+182_1430+184del
ENST00000434205.8:c.1127+182_1127+184del	ENSP00000406559.4:n.1127+182_1127+184del
ENST00000545228.3:c.1618+182_1618+184del	ENSP00000438169.3:n.1618+182_1618+184del
ENST00000577197.2:n.628+182_628+184del
ENST00000579449.2:n.2170+182_2170+184del
ENST00000580013.6:n.2574+182_2574+184del
ENST00000679370.1:n.2952+182_2952+184del
ENST00000679429.1:c.*888+182_*888+184del	ENSP00000505403.1:n.*888+182_*888+184del
ENST00000679443.1:n.1499+182_1499+184del
ENST00000679782.1:c.*129+182_*129+184del	ENSP00000505995.1:n.*129+182_*129+184del
ENST00000679919.1:n.1701+182_1701+184del
ENST00000679928.1:c.*1982+182_*1982+184del	ENSP00000506071.1:n.*1982+182_*1982+184del
ENST00000680528.1:n.2396+182_2396+184del
ENST00000680999.1:c.1643+182_1643+184del	ENSP00000504984.1:n.1643+182_1643+184del
ENST00000681282.1:c.*1617+182_*1617+184del	ENSP00000506339.1:n.*1617+182_*1617+184del
ENST00000333213.10:c.1430+182_1430+184del	ENSP00000327487.6:n.1430+182_1430+184del
ENST00000545228.2:c.707+182_707+184del
ENST00000577197.1:n.178+182_178+184del
ENST00000579449.1:n.627+182_627+184del
NM_207346.2:c.1430+182_1430+184del	NP_997229.2:n.1430+182_1430+184del
XM_005257229.2:c.1618+182_1618+184del	XP_005257286.1:n.1618+182_1618+184del
XM_006721821.2:c.1315+182_1315+184del	XP_006721884.1:n.1315+182_1315+184del
XM_011524616.1:c.1502-301_1502-299del	XP_011522918.1:n.1502-301_1502-299del
XM_011524617.1:c.*13-301_*13-299del	XP_011522919.1:n.*13-301_*13-299del
XM_011524618.1:c.1314-301_1314-299del	XP_011522920.1:n.1314-301_1314-299del
XR_243646.2:n.1662+182_1662+184del
XM_005257229.4:c.1618+182_1618+184del	XP_005257286.1:n.1618+182_1618+184del
XR_001753015.1:n.87+351_87+353del
XR_001753016.1:n.88+351_88+353del
XR_243646.4:n.1668+182_1668+184del
NM_207346.3:c.1430+182_1430+184del MANE Select	NP_997229.2:n.1430+182_1430+184del