Canonical Allele Identifier: CA2680956765

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158114827-A-AGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114828_158114830dup , CM000668.2:g.158114828_158114830dup	GRCh38
NC_000006.11:g.158535860_158535862dup , CM000668.1:g.158535860_158535862dup	GRCh37
NC_000006.10:g.158455848_158455850dup	NCBI36
NG_032889.1:g.58451_58453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.855_857dup	ENSP00000391168.2:n.855_857dup
ENST00000607071.6:c.*1363_*1365dup	ENSP00000475855.1:n.*1363_*1365dup
ENST00000642244.1:c.1553_1555dup	ENSP00000493554.1:p.Tyr518_Leu519insHis
ENST00000642903.1:c.1643_1645dup	ENSP00000493559.1:p.Tyr548_Leu549insHis
ENST00000644972.1:c.1643_1645dup	ENSP00000496451.1:p.Tyr548_Leu549insHis
ENST00000645077.1:c.*1264_*1266dup	ENSP00000496113.1:n.*1264_*1266dup
ENST00000645172.1:c.*1345_*1347dup	ENSP00000495367.1:n.*1345_*1347dup
ENST00000646190.1:n.2974_2976dup
ENST00000646208.1:c.1379_1381dup	ENSP00000493723.1:p.Tyr460_Leu461insHis
ENST00000646410.1:c.1514_1516dup	ENSP00000494205.1:p.Tyr505_Leu506insHis
ENST00000646562.1:c.*1477_*1479dup	ENSP00000496087.1:n.*1477_*1479dup
ENST00000647468.2:c.1643_1645dup MANE Select	ENSP00000496731.1:p.Tyr548_Leu549insHis
ENST00000648111.1:c.*1331_*1333dup	ENSP00000497275.1:n.*1331_*1333dup
ENST00000367101.5:c.*91_*93dup	ENSP00000356068.1:n.*91_*93dup
ENST00000367104.7:c.1643_1645dup	ENSP00000356071.3:p.Tyr548_Leu549insHis
ENST00000435180.5:c.368_370dup	ENSP00000391168.1:p.Tyr123_Leu124insHis
ENST00000606965.5:c.*204_*206dup	ENSP00000475808.1:n.*204_*206dup
ENST00000607071.5:c.*1577_*1579dup	ENSP00000475855.1:n.*1577_*1579dup
ENST00000607742.5:c.*2921_*2923dup	ENSP00000475523.1:n.*2921_*2923dup
NM_032861.3:c.1643_1645dup	NP_116250.3:p.Tyr548_Leu549insHis
NR_073096.1:n.1576_1578dup
XM_006715586.1:c.1433_1435dup	XP_006715649.1:p.Tyr478_Leu479insHis
XM_011536196.1:c.1622_1624dup	XP_011534498.1:p.Tyr541_Leu542insHis
XM_011536197.1:c.1529_1531dup	XP_011534499.1:p.Tyr510_Leu511insHis
XM_011536198.1:c.1433_1435dup	XP_011534500.1:p.Tyr478_Leu479insHis
XM_006715586.3:c.1433_1435dup	XP_006715649.1:p.Tyr478_Leu479insHis
XM_011536196.3:c.1622_1624dup	XP_011534498.1:p.Tyr541_Leu542insHis
XM_011536198.3:c.1433_1435dup	XP_011534500.1:p.Tyr478_Leu479insHis
XM_024446573.1:c.1643_1645dup	XP_024302341.1:p.Tyr548_Leu549insHis
XR_001743697.2:n.1674_1676dup
XR_942606.2:n.1725_1727dup
NM_032861.4:c.1643_1645dup MANE Select	NP_116250.3:p.Tyr548_Leu549insHis
NR_073096.2:n.1558_1560dup