Canonical Allele Identifier: CA1628833164

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479681_52479682delinsGT , CM000668.2:g.52479681_52479682delinsGT	GRCh38
NC_000006.11:g.52344479_52344480delinsGT , CM000668.1:g.52344479_52344480delinsGT	GRCh37
NC_000006.10:g.52452438_52452439delinsGT	NCBI36
NG_016760.1:g.64486_64487delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1534_1535delinsGT MANE Select	ENSP00000360107.4:p.Val512=
ENST00000480623.6:c.1534_1535delinsGT	ENSP00000434498.2:p.Val512=
ENST00000635760.1:c.1210_1211delinsGT	ENSP00000489765.1:p.Val404=
ENST00000635812.1:c.*835_*836delinsGT	ENSP00000490859.1:n.*835_*836delinsGT
ENST00000635866.1:c.*1403_*1404delinsGT	ENSP00000489866.1:n.*1403_*1404delinsGT
ENST00000635911.1:n.3052_3053delinsGT
ENST00000635984.1:c.1210_1211delinsGT	ENSP00000489921.1:p.Val404=
ENST00000635996.1:c.1534_1535delinsGT	ENSP00000490256.1:p.Val512=
ENST00000636107.1:c.1534_1535delinsGT	ENSP00000489680.1:p.Val512=
ENST00000636311.1:n.1428_1429delinsGT
ENST00000636343.1:c.1200_1201delinsGT
ENST00000636379.1:c.1246_1247delinsGT	ENSP00000490622.1:p.Val416=
ENST00000636398.1:c.1234_1235delinsGT	ENSP00000489654.1:n.1234_1235delinsGT
ENST00000636489.1:c.1477_1478delinsGT	ENSP00000489998.1:p.Val493=
ENST00000636616.1:n.1095_1096delinsGT
ENST00000636702.1:c.1504_1505delinsGT	ENSP00000489623.1:p.Val502=
ENST00000636954.1:c.1477_1478delinsGT	ENSP00000489966.1:p.Val493=
ENST00000637089.1:c.1534_1535delinsGT	ENSP00000489854.1:p.Val512=
ENST00000637121.1:n.1336_1337delinsGT
ENST00000637263.1:c.1534_1535delinsGT	ENSP00000489700.1:p.Val512=
ENST00000637340.1:n.3459_3460delinsGT
ENST00000637353.1:c.1534_1535delinsGT	ENSP00000490441.1:p.Val512=
ENST00000637602.1:c.*1235_*1236delinsGT	ENSP00000490074.1:n.*1235_*1236delinsGT
ENST00000637849.1:n.1598_1599delinsGT
ENST00000637874.1:c.479_480delinsGT	ENSP00000490348.1:n.479_480delinsGT
ENST00000637892.1:n.1738_1739delinsGT
ENST00000371068.9:c.1534_1535delinsGT	ENSP00000360107.4:p.Val512=
ENST00000480623.5:c.*1954_*1955delinsGT	ENSP00000434498.1:n.*1954_*1955delinsGT
ENST00000538167.2:c.1477_1478delinsGT	ENSP00000444521.1:p.Val493=
NM_001172420.1:c.1477_1478delinsGT	NP_001165891.1:p.Val493=
NM_018100.3:c.1534_1535delinsGT	NP_060570.2:p.Val512=
NR_033327.1:n.3006_3007delinsGT
NM_018100.4:c.1534_1535delinsGT MANE Select	NP_060570.2:p.Val512=
NM_001172420.2:c.1477_1478delinsGT	NP_001165891.1:p.Val493=
NR_033327.2:n.2860_2861delinsGT