Canonical Allele Identifier: CA1628833221

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479697_52479701delinsAGAGC , CM000668.2:g.52479697_52479701delinsAGAGC	GRCh38
NC_000006.11:g.52344495_52344499delinsAGAGC , CM000668.1:g.52344495_52344499delinsAGAGC	GRCh37
NC_000006.10:g.52452454_52452458delinsAGAGC	NCBI36
NG_016760.1:g.64502_64506delinsAGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1550_1554delinsAGAGC MANE Select	ENSP00000360107.4:p.Glu517=
ENST00000480623.6:c.1550_1554delinsAGAGC	ENSP00000434498.2:p.Glu517=
ENST00000635760.1:c.1226_1230delinsAGAGC	ENSP00000489765.1:p.Glu409=
ENST00000635812.1:c.*851_*855delinsAGAGC	ENSP00000490859.1:n.*851_*855delinsAGAGC
ENST00000635866.1:c.*1419_*1423delinsAGAGC	ENSP00000489866.1:n.*1419_*1423delinsAGAGC
ENST00000635911.1:n.3068_3072delinsAGAGC
ENST00000635984.1:c.1226_1230delinsAGAGC	ENSP00000489921.1:p.Glu409=
ENST00000635996.1:c.1550_1554delinsAGAGC	ENSP00000490256.1:p.Glu517=
ENST00000636107.1:c.1550_1554delinsAGAGC	ENSP00000489680.1:p.Glu517=
ENST00000636311.1:n.1444_1448delinsAGAGC
ENST00000636343.1:c.1216_1220delinsAGAGC
ENST00000636379.1:c.1262_1266delinsAGAGC	ENSP00000490622.1:p.Glu421=
ENST00000636398.1:c.1250_1254delinsAGAGC	ENSP00000489654.1:n.1250_1254delinsAGAGC
ENST00000636489.1:c.1493_1497delinsAGAGC	ENSP00000489998.1:p.Glu498=
ENST00000636616.1:n.1111_1115delinsAGAGC
ENST00000636702.1:c.1520_1524delinsAGAGC	ENSP00000489623.1:p.Glu507=
ENST00000636954.1:c.1493_1497delinsAGAGC	ENSP00000489966.1:p.Glu498=
ENST00000637089.1:c.1550_1554delinsAGAGC	ENSP00000489854.1:p.Glu517=
ENST00000637121.1:n.1352_1356delinsAGAGC
ENST00000637263.1:c.1550_1554delinsAGAGC	ENSP00000489700.1:p.Glu517=
ENST00000637340.1:n.3475_3479delinsAGAGC
ENST00000637353.1:c.1550_1554delinsAGAGC	ENSP00000490441.1:p.Glu517=
ENST00000637602.1:c.*1251_*1255delinsAGAGC	ENSP00000490074.1:n.*1251_*1255delinsAGAGC
ENST00000637849.1:n.1614_1618delinsAGAGC
ENST00000637892.1:n.1754_1758delinsAGAGC
ENST00000371068.9:c.1550_1554delinsAGAGC	ENSP00000360107.4:p.Glu517=
ENST00000480623.5:c.*1970_*1974delinsAGAGC	ENSP00000434498.1:n.*1970_*1974delinsAGAGC
ENST00000538167.2:c.1493_1497delinsAGAGC	ENSP00000444521.1:p.Glu498=
NM_001172420.1:c.1493_1497delinsAGAGC	NP_001165891.1:p.Glu498=
NM_018100.3:c.1550_1554delinsAGAGC	NP_060570.2:p.Glu517=
NR_033327.1:n.3022_3026delinsAGAGC
NM_018100.4:c.1550_1554delinsAGAGC MANE Select	NP_060570.2:p.Glu517=
NM_001172420.2:c.1493_1497delinsAGAGC	NP_001165891.1:p.Glu498=
NR_033327.2:n.2876_2880delinsAGAGC