Canonical Allele Identifier: CA4071010
Gene: SERAC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430608
ClinVar RCV Id: RCV000494711
dbSNP Id: rs761964407

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158114829_158114832dup , CM000668.2:g.158114829_158114832dup GRCh38
NC_000006.11:g.158535861_158535864dup , CM000668.1:g.158535861_158535864dup GRCh37
NC_000006.10:g.158455849_158455852dup NCBI36
NG_032889.1:g.58451_58454dup

Transcript Alleles

HGVS Amino-acid change
ENST00000435180.6:c.855_858dup ENSP00000391168.2:n.855_858dup
ENST00000607071.6:c.*1363_*1366dup ENSP00000475855.1:n.*1363_*1366dup
ENST00000642244.1:c.1553_1556dup ENSP00000493554.1:p.Leu520SerfsTer19
ENST00000642903.1:c.1643_1646dup ENSP00000493559.1:p.Leu550SerfsTer15
ENST00000644972.1:c.1643_1646dup ENSP00000496451.1:p.Leu550SerfsTer19
ENST00000645077.1:c.*1264_*1267dup ENSP00000496113.1:n.*1264_*1267dup
ENST00000645172.1:c.*1345_*1348dup ENSP00000495367.1:n.*1345_*1348dup
ENST00000646190.1:n.2974_2977dup
ENST00000646208.1:c.1379_1382dup ENSP00000493723.1:p.Leu462SerfsTer19
ENST00000646410.1:c.1514_1517dup ENSP00000494205.1:p.Leu507SerfsTer19
ENST00000646562.1:c.*1477_*1480dup ENSP00000496087.1:n.*1477_*1480dup
ENST00000647468.2:c.1643_1646dup MANE Select ENSP00000496731.1:p.Leu550SerfsTer19
ENST00000648111.1:c.*1331_*1334dup ENSP00000497275.1:n.*1331_*1334dup
ENST00000367101.5:c.*91_*94dup ENSP00000356068.1:n.*91_*94dup
ENST00000367104.7:c.1643_1646dup ENSP00000356071.3:p.Leu550SerfsTer19
ENST00000435180.5:c.368_371dup ENSP00000391168.1:p.Leu125SerfsTer15
ENST00000606965.5:c.*204_*207dup ENSP00000475808.1:n.*204_*207dup
ENST00000607071.5:c.*1577_*1580dup ENSP00000475855.1:n.*1577_*1580dup
ENST00000607742.5:c.*2921_*2924dup ENSP00000475523.1:n.*2921_*2924dup
NM_032861.3:c.1643_1646dup NP_116250.3:p.Leu550SerfsTer19
NR_073096.1:n.1576_1579dup
XM_006715586.1:c.1433_1436dup XP_006715649.1:p.Leu480SerfsTer19
XM_011536196.1:c.1622_1625dup XP_011534498.1:p.Leu543SerfsTer19
XM_011536197.1:c.1529_1532dup XP_011534499.1:p.Leu512SerfsTer19
XM_011536198.1:c.1433_1436dup XP_011534500.1:p.Leu480SerfsTer19
XM_006715586.3:c.1433_1436dup XP_006715649.1:p.Leu480SerfsTer19
XM_011536196.3:c.1622_1625dup XP_011534498.1:p.Leu543SerfsTer19
XM_011536198.3:c.1433_1436dup XP_011534500.1:p.Leu480SerfsTer19
XM_024446573.1:c.1643_1646dup XP_024302341.1:p.Leu550SerfsTer19
XR_001743697.2:n.1674_1677dup
XR_942606.2:n.1725_1728dup
NM_032861.4:c.1643_1646dup MANE Select NP_116250.3:p.Leu550SerfsTer19
NR_073096.2:n.1558_1561dup