Canonical Allele Identifier: CA821386696

Gene: SERAC1

Linked Data

• dbSNP Id: rs1554261070
• gnomAD v3: 6-158114843-C-CAGAGT
• gnomAD v4: 6-158114843-C-CAGAGT
• MyVariant Identifiers: chr6:g.158535875_158535876insAGAGT (hg19) ; chr6:g.158114843_158114844insAGAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114845_158114849dup , CM000668.2:g.158114845_158114849dup	GRCh38
NC_000006.11:g.158535877_158535881dup , CM000668.1:g.158535877_158535881dup	GRCh37
NC_000006.10:g.158455865_158455869dup	NCBI36
NG_032889.1:g.58433_58437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.837_841dup	ENSP00000391168.2:n.837_841dup
ENST00000607071.6:c.*1345_*1349dup	ENSP00000475855.1:n.*1345_*1349dup
ENST00000642244.1:c.1535_1539dup	ENSP00000493554.1:p.Val514ThrfsTer?
ENST00000642903.1:c.1625_1629dup	ENSP00000493559.1:p.Val544ThrfsTer?
ENST00000644972.1:c.1625_1629dup	ENSP00000496451.1:p.Val544ThrfsTer?
ENST00000645077.1:c.*1246_*1250dup	ENSP00000496113.1:n.*1246_*1250dup
ENST00000645172.1:c.*1327_*1331dup	ENSP00000495367.1:n.*1327_*1331dup
ENST00000646190.1:n.2956_2960dup
ENST00000646208.1:c.1361_1365dup	ENSP00000493723.1:p.Val456ThrfsTer?
ENST00000646410.1:c.1496_1500dup	ENSP00000494205.1:p.Val501ThrfsTer?
ENST00000646562.1:c.*1459_*1463dup	ENSP00000496087.1:n.*1459_*1463dup
ENST00000647468.2:c.1625_1629dup MANE Select	ENSP00000496731.1:p.Val544ThrfsTer?
ENST00000648111.1:c.*1313_*1317dup	ENSP00000497275.1:n.*1313_*1317dup
ENST00000367101.5:c.*73_*77dup	ENSP00000356068.1:n.*73_*77dup
ENST00000367104.7:c.1625_1629dup	ENSP00000356071.3:p.Val544ThrfsTer?
ENST00000435180.5:c.350_354dup	ENSP00000391168.1:p.Val119ThrfsTer?
ENST00000606965.5:c.*186_*190dup	ENSP00000475808.1:n.*186_*190dup
ENST00000607071.5:c.*1559_*1563dup	ENSP00000475855.1:n.*1559_*1563dup
ENST00000607742.5:c.*2903_*2907dup	ENSP00000475523.1:n.*2903_*2907dup
NM_032861.3:c.1625_1629dup	NP_116250.3:p.Val544ThrfsTer?
NR_073096.1:n.1558_1562dup
XM_006715586.1:c.1415_1419dup	XP_006715649.1:p.Val474ThrfsTer?
XM_011536196.1:c.1604_1608dup	XP_011534498.1:p.Val537ThrfsTer?
XM_011536197.1:c.1511_1515dup	XP_011534499.1:p.Val506ThrfsTer?
XM_011536198.1:c.1415_1419dup	XP_011534500.1:p.Val474ThrfsTer?
XM_006715586.3:c.1415_1419dup	XP_006715649.1:p.Val474ThrfsTer?
XM_011536196.3:c.1604_1608dup	XP_011534498.1:p.Val537ThrfsTer?
XM_011536198.3:c.1415_1419dup	XP_011534500.1:p.Val474ThrfsTer?
XM_024446573.1:c.1625_1629dup	XP_024302341.1:p.Val544ThrfsTer?
XR_001743697.2:n.1656_1660dup
XR_942606.2:n.1707_1711dup
NM_032861.4:c.1625_1629dup MANE Select	NP_116250.3:p.Val544ThrfsTer?
NR_073096.2:n.1540_1544dup