Canonical Allele Identifier: CA1628833234

Gene: EFHC1

Linked Data

• dbSNP Id: rs1765630552

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479699_52479700insT , CM000668.2:g.52479699_52479700insT	GRCh38
NC_000006.11:g.52344497_52344498insT , CM000668.1:g.52344497_52344498insT	GRCh37
NC_000006.10:g.52452456_52452457insT	NCBI36
NG_016760.1:g.64504_64505insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1552_1553insT MANE Select	ENSP00000360107.4:p.Ser518MetfsTer?
ENST00000480623.6:c.1552_1553insT	ENSP00000434498.2:p.Ser518MetfsTer?
ENST00000635760.1:c.1228_1229insT	ENSP00000489765.1:p.Ser410MetfsTer?
ENST00000635812.1:c.*853_*854insT	ENSP00000490859.1:n.*853_*854insT
ENST00000635866.1:c.*1421_*1422insT	ENSP00000489866.1:n.*1421_*1422insT
ENST00000635911.1:n.3070_3071insT
ENST00000635984.1:c.1228_1229insT	ENSP00000489921.1:p.Ser410MetfsTer?
ENST00000635996.1:c.1552_1553insT	ENSP00000490256.1:p.Ser518MetfsTer?
ENST00000636107.1:c.1552_1553insT	ENSP00000489680.1:p.Ser518MetfsTer?
ENST00000636311.1:n.1446_1447insT
ENST00000636343.1:c.1218_1219insT
ENST00000636379.1:c.1264_1265insT	ENSP00000490622.1:p.Ser422MetfsTer?
ENST00000636398.1:c.1252_1253insT	ENSP00000489654.1:n.1252_1253insT
ENST00000636489.1:c.1495_1496insT	ENSP00000489998.1:p.Ser499MetfsTer?
ENST00000636616.1:n.1113_1114insT
ENST00000636702.1:c.1522_1523insT	ENSP00000489623.1:p.Ser508MetfsTer?
ENST00000636954.1:c.1495_1496insT	ENSP00000489966.1:p.Ser499MetfsTer?
ENST00000637089.1:c.1552_1553insT	ENSP00000489854.1:p.Ser518MetfsTer?
ENST00000637121.1:n.1354_1355insT
ENST00000637263.1:c.1552_1553insT	ENSP00000489700.1:p.Ser518MetfsTer?
ENST00000637340.1:n.3477_3478insT
ENST00000637353.1:c.1552_1553insT	ENSP00000490441.1:p.Ser518MetfsTer?
ENST00000637602.1:c.*1253_*1254insT	ENSP00000490074.1:n.*1253_*1254insT
ENST00000637849.1:n.1616_1617insT
ENST00000637892.1:n.1756_1757insT
ENST00000371068.9:c.1552_1553insT	ENSP00000360107.4:p.Ser518MetfsTer?
ENST00000480623.5:c.*1972_*1973insT	ENSP00000434498.1:n.*1972_*1973insT
ENST00000538167.2:c.1495_1496insT	ENSP00000444521.1:p.Ser499MetfsTer?
NM_001172420.1:c.1495_1496insT	NP_001165891.1:p.Ser499MetfsTer?
NM_018100.3:c.1552_1553insT	NP_060570.2:p.Ser518MetfsTer?
NR_033327.1:n.3024_3025insT
NM_018100.4:c.1552_1553insT MANE Select	NP_060570.2:p.Ser518MetfsTer?
NM_001172420.2:c.1495_1496insT	NP_001165891.1:p.Ser499MetfsTer?
NR_033327.2:n.2878_2879insT