Canonical Allele Identifier: CA16618269

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 420150
• ClinVar RCV Id: RCV000482342 ; RCV001814159 ; RCV003889905
• dbSNP Id: rs1554260851

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158113439_158113455delinsCCTGTTGGT , CM000668.2:g.158113439_158113455delinsCCTGTTGGT	GRCh38
NC_000006.11:g.158534471_158534487delinsCCTGTTGGT , CM000668.1:g.158534471_158534487delinsCCTGTTGGT	GRCh37
NC_000006.10:g.158454459_158454475delinsCCTGTTGGT	NCBI36
NG_032889.1:g.59826_59842delinsACCAACAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1542_*1548+10delinsACCAACAGG
ENST00000642244.1:c.1732_1738+10delinsACCAACAGG
ENST00000644972.1:c.1822_1838delinsACCAACAGG	ENSP00000496451.1:p.Ser608ThrfsTer5
ENST00000645077.1:c.*1443_*1459delinsACCAACAGG	ENSP00000496113.1:n.*1443_*1459delinsACCAACAGG
ENST00000645172.1:c.*1524_*1530+10delinsACCAACAGG
ENST00000646190.1:n.3153_3159+10delinsACCAACAGG
ENST00000646208.1:c.1558_1564+10delinsACCAACAGG
ENST00000646410.1:c.1693_1699+10delinsACCAACAGG
ENST00000647468.2:c.1822_1828+10delinsACCAACAGG
ENST00000648111.1:c.*1510_*1516+10delinsACCAACAGG
ENST00000367104.7:c.1822_1828+10delinsACCAACAGG
ENST00000607071.5:c.*1756_*1762+10delinsACCAACAGG
ENST00000607742.5:c.*3100_*3106+10delinsACCAACAGG
NM_032861.3:c.1822_1828+10delinsACCAACAGG
XM_006715586.1:c.1612_1618+10delinsACCAACAGG
XM_011536196.1:c.1801_1807+10delinsACCAACAGG
XM_011536197.1:c.1708_1714+10delinsACCAACAGG
XM_011536198.1:c.1612_1618+10delinsACCAACAGG
XM_006715586.3:c.1612_1618+10delinsACCAACAGG
XM_011536196.3:c.1801_1807+10delinsACCAACAGG
XM_011536198.3:c.1612_1618+10delinsACCAACAGG
XM_024446573.1:c.1822_1828+10delinsACCAACAGG
XR_001743697.2:n.1853_1859+10delinsACCAACAGG
XR_942606.2:n.1904_1910+10delinsACCAACAGG
NM_032861.4:c.1822_1828+10delinsACCAACAGG