Canonical Allele Identifier: CA986325284

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053466957
• gnomAD v3: 17-75523986-CTT-C
• gnomAD v4: 17-75523986-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523988_75523989del , CM000679.2:g.75523988_75523989del	GRCh38
NC_000017.10:g.73520069_73520070del , CM000679.1:g.73520069_73520070del	GRCh37
NC_000017.9:g.71031664_71031665del	NCBI36
NG_013041.1:g.12461_12462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1430+209_1430+210del MANE Select	ENSP00000327487.6:n.1430+209_1430+210del
ENST00000434205.8:c.1127+209_1127+210del	ENSP00000406559.4:n.1127+209_1127+210del
ENST00000545228.3:c.1618+209_1618+210del	ENSP00000438169.3:n.1618+209_1618+210del
ENST00000577197.2:n.628+209_628+210del
ENST00000579449.2:n.2170+209_2170+210del
ENST00000580013.6:n.2574+209_2574+210del
ENST00000679370.1:n.2952+209_2952+210del
ENST00000679429.1:c.*888+209_*888+210del	ENSP00000505403.1:n.*888+209_*888+210del
ENST00000679443.1:n.1499+209_1499+210del
ENST00000679782.1:c.*129+209_*129+210del	ENSP00000505995.1:n.*129+209_*129+210del
ENST00000679919.1:n.1701+209_1701+210del
ENST00000679928.1:c.*1982+209_*1982+210del	ENSP00000506071.1:n.*1982+209_*1982+210del
ENST00000680528.1:n.2396+209_2396+210del
ENST00000680999.1:c.1643+209_1643+210del	ENSP00000504984.1:n.1643+209_1643+210del
ENST00000681282.1:c.*1617+209_*1617+210del	ENSP00000506339.1:n.*1617+209_*1617+210del
ENST00000333213.10:c.1430+209_1430+210del	ENSP00000327487.6:n.1430+209_1430+210del
ENST00000545228.2:c.707+209_707+210del
ENST00000577197.1:n.178+209_178+210del
ENST00000579449.1:n.627+209_627+210del
NM_207346.2:c.1430+209_1430+210del	NP_997229.2:n.1430+209_1430+210del
XM_005257229.2:c.1618+209_1618+210del	XP_005257286.1:n.1618+209_1618+210del
XM_006721821.2:c.1315+209_1315+210del	XP_006721884.1:n.1315+209_1315+210del
XM_011524616.1:c.1502-274_1502-273del	XP_011522918.1:n.1502-274_1502-273del
XM_011524617.1:c.*13-274_*13-273del	XP_011522919.1:n.*13-274_*13-273del
XM_011524618.1:c.1314-274_1314-273del	XP_011522920.1:n.1314-274_1314-273del
XR_243646.2:n.1662+209_1662+210del
XM_005257229.4:c.1618+209_1618+210del	XP_005257286.1:n.1618+209_1618+210del
XR_001753015.1:n.87+323_87+324del
XR_001753016.1:n.88+323_88+324del
XR_243646.4:n.1668+209_1668+210del
NM_207346.3:c.1430+209_1430+210del MANE Select	NP_997229.2:n.1430+209_1430+210del