Canonical Allele Identifier: CA915944798
Gene: SERAC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 689786
ClinVar RCV Id: RCV000850598
dbSNP Id: rs1583595091

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158146832del , CM000668.2:g.158146832del GRCh38
NC_000006.11:g.158567864del , CM000668.1:g.158567864del GRCh37
NC_000006.10:g.158487852del NCBI36
NG_032889.1:g.26450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000607071.6:c.*272del ENSP00000475855.1:n.*272del
ENST00000642244.1:c.348del ENSP00000493554.1:p.Thr117ArgfsTer22
ENST00000642903.1:c.438del ENSP00000493559.1:p.Thr147ArgfsTer22
ENST00000644972.1:c.438del ENSP00000496451.1:p.Thr147ArgfsTer22
ENST00000645077.1:c.*272del ENSP00000496113.1:n.*272del
ENST00000645172.1:c.*189+2034del ENSP00000495367.1:n.*189+2034del
ENST00000646190.1:n.1669del
ENST00000646208.1:c.174del ENSP00000493723.1:p.Thr59ArgfsTer22
ENST00000646410.1:c.309del ENSP00000494205.1:p.Thr104ArgfsTer22
ENST00000646562.1:c.*272del ENSP00000496087.1:n.*272del
ENST00000647468.2:c.438del MANE Select ENSP00000496731.1:p.Thr147ArgfsTer22
ENST00000648111.1:c.*82del ENSP00000497275.1:n.*82del
ENST00000367101.5:c.438del ENSP00000356068.1:p.Thr147ArgfsTer22
ENST00000367104.7:c.438del ENSP00000356071.3:p.Thr147ArgfsTer22
ENST00000606965.5:c.438del ENSP00000475808.1:p.Thr147ArgfsTer22
ENST00000607000.1:c.438del ENSP00000475788.1:p.Thr147ArgfsTer?
ENST00000607071.5:c.*272del ENSP00000475855.1:n.*272del
ENST00000607742.5:c.*272del ENSP00000475523.1:n.*272del
NM_032861.3:c.438del NP_116250.3:p.Thr147ArgfsTer22
NR_073096.1:n.580del
XM_006715586.1:c.228del XP_006715649.1:p.Thr77ArgfsTer22
XM_011536196.1:c.417del XP_011534498.1:p.Thr140ArgfsTer22
XM_011536197.1:c.438del XP_011534499.1:p.Thr147ArgfsTer22
XM_011536198.1:c.228del XP_011534500.1:p.Thr77ArgfsTer22
XR_942606.1:n.439del
XM_006715586.3:c.228del XP_006715649.1:p.Thr77ArgfsTer22
XM_011536196.3:c.417del XP_011534498.1:p.Thr140ArgfsTer22
XM_011536198.3:c.228del XP_011534500.1:p.Thr77ArgfsTer22
XM_024446573.1:c.438del XP_024302341.1:p.Thr147ArgfsTer22
XR_001743697.2:n.519del
XR_942606.2:n.570del
NM_032861.4:c.438del MANE Select NP_116250.3:p.Thr147ArgfsTer22
NR_073096.2:n.562del