Canonical Allele Identifier: CA2713757791
Gene: SERAC1 HGNC NCBI

Linked Data

dbSNP Id: rs2128410508

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158114689_158114716del , CM000668.2:g.158114689_158114716del GRCh38
NC_000006.11:g.158535721_158535748del , CM000668.1:g.158535721_158535748del GRCh37
NC_000006.10:g.158455709_158455736del NCBI36
NG_032889.1:g.58565_58592del

Transcript Alleles

HGVS Amino-acid Change
ENST00000607071.6:c.*1404+73_*1404+100del ENSP00000475855.1:n.*1404+73_*1404+100del
ENST00000642244.1:c.1594+73_1594+100del ENSP00000493554.1:n.1594+73_1594+100del
ENST00000642903.1:c.1757_*20del ENSP00000493559.1:n.[c.1757_*20del;Leu586HisfsTer18]
ENST00000644972.1:c.1684+73_1684+100del ENSP00000496451.1:n.1684+73_1684+100del
ENST00000645077.1:c.*1305+73_*1305+100del ENSP00000496113.1:n.*1305+73_*1305+100del
ENST00000645172.1:c.*1386+73_*1386+100del ENSP00000495367.1:n.*1386+73_*1386+100del
ENST00000646190.1:n.3015+73_3015+100del
ENST00000646208.1:c.1420+73_1420+100del ENSP00000493723.1:n.1420+73_1420+100del
ENST00000646410.1:c.1555+73_1555+100del ENSP00000494205.1:n.1555+73_1555+100del
ENST00000646562.1:c.*1591_*1618del ENSP00000496087.1:n.*1591_*1618del
ENST00000647468.2:c.1684+73_1684+100del MANE Select ENSP00000496731.1:n.1684+73_1684+100del
ENST00000648111.1:c.*1372+73_*1372+100del ENSP00000497275.1:n.*1372+73_*1372+100del
ENST00000367104.7:c.1684+73_1684+100del ENSP00000356071.3:n.1684+73_1684+100del
ENST00000606965.5:c.*318_*345del ENSP00000475808.1:n.*318_*345del
ENST00000607071.5:c.*1618+73_*1618+100del ENSP00000475855.1:n.*1618+73_*1618+100del
ENST00000607742.5:c.*2962+73_*2962+100del ENSP00000475523.1:n.*2962+73_*2962+100del
NM_032861.3:c.1684+73_1684+100del NP_116250.3:n.1684+73_1684+100del
NR_073096.1:n.1690_1717del
XM_006715586.1:c.1474+73_1474+100del XP_006715649.1:n.1474+73_1474+100del
XM_011536196.1:c.1663+73_1663+100del XP_011534498.1:n.1663+73_1663+100del
XM_011536197.1:c.1570+73_1570+100del XP_011534499.1:n.1570+73_1570+100del
XM_011536198.1:c.1474+73_1474+100del XP_011534500.1:n.1474+73_1474+100del
XM_006715586.3:c.1474+73_1474+100del XP_006715649.1:n.1474+73_1474+100del
XM_011536196.3:c.1663+73_1663+100del XP_011534498.1:n.1663+73_1663+100del
XM_011536198.3:c.1474+73_1474+100del XP_011534500.1:n.1474+73_1474+100del
XM_024446573.1:c.1684+73_1684+100del XP_024302341.1:n.1684+73_1684+100del
XR_001743697.2:n.1715+73_1715+100del
XR_942606.2:n.1766+73_1766+100del
NM_032861.4:c.1684+73_1684+100del MANE Select NP_116250.3:n.1684+73_1684+100del
NR_073096.2:n.1672_1699del