Canonical Allele Identifier: CA2679104419

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479774-CCAGAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479780_52479785del , CM000668.2:g.52479780_52479785del	GRCh38
NC_000006.11:g.52344578_52344583del , CM000668.1:g.52344578_52344583del	GRCh37
NC_000006.10:g.52452537_52452542del	NCBI36
NG_016760.1:g.64585_64590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1633_1638del MANE Select	ENSP00000360107.4:p.Ala545_Glu546del
ENST00000480623.6:c.1633_1638del	ENSP00000434498.2:p.Ala545_Glu546del
ENST00000635760.1:c.1309_1314del	ENSP00000489765.1:p.Ala437_Glu438del
ENST00000635812.1:c.*934_*939del	ENSP00000490859.1:n.*934_*939del
ENST00000635866.1:c.*1502_*1507del	ENSP00000489866.1:n.*1502_*1507del
ENST00000635911.1:n.3151_3156del
ENST00000635984.1:c.1309_1314del	ENSP00000489921.1:p.Ala437_Glu438del
ENST00000635996.1:c.1633_1638del	ENSP00000490256.1:p.Ala545_Glu546del
ENST00000636107.1:c.1633_1638del	ENSP00000489680.1:p.Ala545_Glu546del
ENST00000636311.1:n.1527_1532del
ENST00000636343.1:c.1299_1304del
ENST00000636379.1:c.1345_1350del	ENSP00000490622.1:p.Ala449_Glu450del
ENST00000636398.1:c.1333_1338del	ENSP00000489654.1:n.1333_1338del
ENST00000636489.1:c.1576_1581del	ENSP00000489998.1:p.Ala526_Glu527del
ENST00000636616.1:n.1194_1199del
ENST00000636702.1:c.1603_1608del	ENSP00000489623.1:p.Ala535_Glu536del
ENST00000636954.1:c.1576_1581del	ENSP00000489966.1:p.Ala526_Glu527del
ENST00000637089.1:c.1633_1638del	ENSP00000489854.1:p.Ala545_Glu546del
ENST00000637121.1:n.1435_1440del
ENST00000637263.1:c.1633_1638del	ENSP00000489700.1:p.Ala545_Glu546del
ENST00000637340.1:n.3558_3563del
ENST00000637353.1:c.1633_1638del	ENSP00000490441.1:p.Ala545_Glu546del
ENST00000637602.1:c.*1334_*1339del	ENSP00000490074.1:n.*1334_*1339del
ENST00000637849.1:n.1697_1702del
ENST00000637892.1:n.1837_1842del
ENST00000371068.9:c.1633_1638del	ENSP00000360107.4:p.Ala545_Glu546del
ENST00000480623.5:c.*2053_*2058del	ENSP00000434498.1:n.*2053_*2058del
ENST00000538167.2:c.1576_1581del	ENSP00000444521.1:p.Ala526_Glu527del
NM_001172420.1:c.1576_1581del	NP_001165891.1:p.Ala526_Glu527del
NM_018100.3:c.1633_1638del	NP_060570.2:p.Ala545_Glu546del
NR_033327.1:n.3105_3110del
NM_018100.4:c.1633_1638del MANE Select	NP_060570.2:p.Ala545_Glu546del
NM_001172420.2:c.1576_1581del	NP_001165891.1:p.Ala526_Glu527del
NR_033327.2:n.2959_2964del