Canonical Allele Identifier: CA2680956638
Gene: SERAC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158114716_158114717insTATAAAAGGAGATAATACATTCAAG , CM000668.2:g.158114716_158114717insTATAAAAGGAGATAATACATTCAAG GRCh38
NC_000006.11:g.158535748_158535749insTATAAAAGGAGATAATACATTCAAG , CM000668.1:g.158535748_158535749insTATAAAAGGAGATAATACATTCAAG GRCh37
NC_000006.10:g.158455736_158455737insTATAAAAGGAGATAATACATTCAAG NCBI36
NG_032889.1:g.58564_58565insCTTGAATGTATTATCTCCTTTTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000607071.6:c.*1404+72_*1404+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000475855.1:n.*1404+72_*1404+73insCTTGAATGTATTATCTCCTTT...
ENST00000642244.1:c.1594+72_1594+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000493554.1:n.1594+72_1594+73insCTTGAATGTATTATCTCCTTTTA...
ENST00000642903.1:c.1756_1757insCTTGAATGTATTATCTCCTTTTATA ENSP00000493559.1:p.Leu586ProfsTer2
ENST00000644972.1:c.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000496451.1:n.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTA...
ENST00000645077.1:c.*1305+72_*1305+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000496113.1:n.*1305+72_*1305+73insCTTGAATGTATTATCTCCTTT...
ENST00000645172.1:c.*1386+72_*1386+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000495367.1:n.*1386+72_*1386+73insCTTGAATGTATTATCTCCTTT...
ENST00000646190.1:n.3015+72_3015+73insCTTGAATGTATTATCTCCTTTTATA
ENST00000646208.1:c.1420+72_1420+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000493723.1:n.1420+72_1420+73insCTTGAATGTATTATCTCCTTTTA...
ENST00000646410.1:c.1555+72_1555+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000494205.1:n.1555+72_1555+73insCTTGAATGTATTATCTCCTTTTA...
ENST00000646562.1:c.*1590_*1591insCTTGAATGTATTATCTCCTTTTATA ENSP00000496087.1:n.*1590_*1591insCTTGAATGTATTATCTCCTTTTATA
ENST00000647468.2:c.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTATA MANE Select ENSP00000496731.1:n.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTA...
ENST00000648111.1:c.*1372+72_*1372+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000497275.1:n.*1372+72_*1372+73insCTTGAATGTATTATCTCCTTT...
ENST00000367104.7:c.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000356071.3:n.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTA...
ENST00000435180.5:c.481_482insCTTGAATGTATTATCTCCTTTTATA ENSP00000391168.1:p.Leu161ProfsTer2
ENST00000606965.5:c.*317_*318insCTTGAATGTATTATCTCCTTTTATA ENSP00000475808.1:n.*317_*318insCTTGAATGTATTATCTCCTTTTATA
ENST00000607071.5:c.*1618+72_*1618+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000475855.1:n.*1618+72_*1618+73insCTTGAATGTATTATCTCCTTT...
ENST00000607742.5:c.*2962+72_*2962+73insCTTGAATGTATTATCTCCTTTTATA ENSP00000475523.1:n.*2962+72_*2962+73insCTTGAATGTATTATCTCCTTT...
NM_032861.3:c.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTATA NP_116250.3:n.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTATA
NR_073096.1:n.1689_1690insCTTGAATGTATTATCTCCTTTTATA
XM_006715586.1:c.1474+72_1474+73insCTTGAATGTATTATCTCCTTTTATA XP_006715649.1:n.1474+72_1474+73insCTTGAATGTATTATCTCCTTTTATA
XM_011536196.1:c.1663+72_1663+73insCTTGAATGTATTATCTCCTTTTATA XP_011534498.1:n.1663+72_1663+73insCTTGAATGTATTATCTCCTTTTATA
XM_011536197.1:c.1570+72_1570+73insCTTGAATGTATTATCTCCTTTTATA XP_011534499.1:n.1570+72_1570+73insCTTGAATGTATTATCTCCTTTTATA
XM_011536198.1:c.1474+72_1474+73insCTTGAATGTATTATCTCCTTTTATA XP_011534500.1:n.1474+72_1474+73insCTTGAATGTATTATCTCCTTTTATA
XM_006715586.3:c.1474+72_1474+73insCTTGAATGTATTATCTCCTTTTATA XP_006715649.1:n.1474+72_1474+73insCTTGAATGTATTATCTCCTTTTATA
XM_011536196.3:c.1663+72_1663+73insCTTGAATGTATTATCTCCTTTTATA XP_011534498.1:n.1663+72_1663+73insCTTGAATGTATTATCTCCTTTTATA
XM_011536198.3:c.1474+72_1474+73insCTTGAATGTATTATCTCCTTTTATA XP_011534500.1:n.1474+72_1474+73insCTTGAATGTATTATCTCCTTTTATA
XM_024446573.1:c.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTATA XP_024302341.1:n.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTATA
XR_001743697.2:n.1715+72_1715+73insCTTGAATGTATTATCTCCTTTTATA
XR_942606.2:n.1766+72_1766+73insCTTGAATGTATTATCTCCTTTTATA
NM_032861.4:c.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTATA MANE Select NP_116250.3:n.1684+72_1684+73insCTTGAATGTATTATCTCCTTTTATA
NR_073096.2:n.1671_1672insCTTGAATGTATTATCTCCTTTTATA