Canonical Allele Identifier: CA2713760855
Gene: SERAC1 HGNC NCBI

Linked Data

dbSNP Id: rs2128421044

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158146879del , CM000668.2:g.158146879del GRCh38
NC_000006.11:g.158567911del , CM000668.1:g.158567911del GRCh37
NC_000006.10:g.158487899del NCBI36
NG_032889.1:g.26402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000607071.6:c.*224del ENSP00000475855.1:n.*224del
ENST00000642244.1:c.300del ENSP00000493554.1:p.Glu100AspfsTer?
ENST00000642903.1:c.390del ENSP00000493559.1:p.Glu130AspfsTer?
ENST00000643093.1:n.440del
ENST00000644972.1:c.390del ENSP00000496451.1:p.Glu130AspfsTer?
ENST00000645077.1:c.*224del ENSP00000496113.1:n.*224del
ENST00000645172.1:c.*189+1986del ENSP00000495367.1:n.*189+1986del
ENST00000646190.1:n.1621del
ENST00000646208.1:c.126del ENSP00000493723.1:p.Glu42AspfsTer?
ENST00000646410.1:c.261del ENSP00000494205.1:p.Glu87AspfsTer?
ENST00000646562.1:c.*224del ENSP00000496087.1:n.*224del
ENST00000647468.2:c.390del MANE Select ENSP00000496731.1:p.Glu130AspfsTer?
ENST00000648111.1:c.*34del ENSP00000497275.1:n.*34del
ENST00000367101.5:c.390del ENSP00000356068.1:p.Glu130AspfsTer?
ENST00000367104.7:c.390del ENSP00000356071.3:p.Glu130AspfsTer?
ENST00000606965.5:c.390del ENSP00000475808.1:p.Glu130AspfsTer?
ENST00000607000.1:c.390del ENSP00000475788.1:p.Glu130AspfsTer?
ENST00000607071.5:c.*224del ENSP00000475855.1:n.*224del
ENST00000607742.5:c.*224del ENSP00000475523.1:n.*224del
NM_032861.3:c.390del NP_116250.3:p.Glu130AspfsTer?
NR_073096.1:n.532del
XM_006715586.1:c.180del XP_006715649.1:p.Glu60AspfsTer?
XM_011536196.1:c.369del XP_011534498.1:p.Glu123AspfsTer?
XM_011536197.1:c.390del XP_011534499.1:p.Glu130AspfsTer?
XM_011536198.1:c.180del XP_011534500.1:p.Glu60AspfsTer?
XR_942606.1:n.391del
XM_006715586.3:c.180del XP_006715649.1:p.Glu60AspfsTer?
XM_011536196.3:c.369del XP_011534498.1:p.Glu123AspfsTer?
XM_011536198.3:c.180del XP_011534500.1:p.Glu60AspfsTer?
XM_024446573.1:c.390del XP_024302341.1:p.Glu130AspfsTer?
XR_001743697.2:n.471del
XR_942606.2:n.522del
NM_032861.4:c.390del MANE Select NP_116250.3:p.Glu130AspfsTer?
NR_073096.2:n.514del