Canonical Allele Identifier: CA1628833209

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479695_52479706delinsGGAGAGCAACGC , CM000668.2:g.52479695_52479706delinsGGAGAGCAACGC	GRCh38
NC_000006.11:g.52344493_52344504delinsGGAGAGCAACGC , CM000668.1:g.52344493_52344504delinsGGAGAGCAACGC	GRCh37
NC_000006.10:g.52452452_52452463delinsGGAGAGCAACGC	NCBI36
NG_016760.1:g.64500_64511delinsGGAGAGCAACGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1548_1559delinsGGAGAGCAACGC MANE Select	ENSP00000360107.4:p.Met516=
ENST00000480623.6:c.1548_1559delinsGGAGAGCAACGC	ENSP00000434498.2:p.Met516=
ENST00000635760.1:c.1224_1235delinsGGAGAGCAACGC	ENSP00000489765.1:p.Met408=
ENST00000635812.1:c.*849_*860delinsGGAGAGCAACGC	ENSP00000490859.1:n.*849_*860delinsGGAGAGCAACGC
ENST00000635866.1:c.*1417_*1428delinsGGAGAGCAACGC	ENSP00000489866.1:n.*1417_*1428delinsGGAGAGCAACGC
ENST00000635911.1:n.3066_3077delinsGGAGAGCAACGC
ENST00000635984.1:c.1224_1235delinsGGAGAGCAACGC	ENSP00000489921.1:p.Met408=
ENST00000635996.1:c.1548_1559delinsGGAGAGCAACGC	ENSP00000490256.1:p.Met516=
ENST00000636107.1:c.1548_1559delinsGGAGAGCAACGC	ENSP00000489680.1:p.Met516=
ENST00000636311.1:n.1442_1453delinsGGAGAGCAACGC
ENST00000636343.1:c.1214_1225delinsGGAGAGCAACGC
ENST00000636379.1:c.1260_1271delinsGGAGAGCAACGC	ENSP00000490622.1:p.Met420=
ENST00000636398.1:c.1248_1259delinsGGAGAGCAACGC	ENSP00000489654.1:n.1248_1259delinsGGAGAGCAACGC
ENST00000636489.1:c.1491_1502delinsGGAGAGCAACGC	ENSP00000489998.1:p.Met497=
ENST00000636616.1:n.1109_1120delinsGGAGAGCAACGC
ENST00000636702.1:c.1518_1529delinsGGAGAGCAACGC	ENSP00000489623.1:p.Met506=
ENST00000636954.1:c.1491_1502delinsGGAGAGCAACGC	ENSP00000489966.1:p.Met497=
ENST00000637089.1:c.1548_1559delinsGGAGAGCAACGC	ENSP00000489854.1:p.Met516=
ENST00000637121.1:n.1350_1361delinsGGAGAGCAACGC
ENST00000637263.1:c.1548_1559delinsGGAGAGCAACGC	ENSP00000489700.1:p.Met516=
ENST00000637340.1:n.3473_3484delinsGGAGAGCAACGC
ENST00000637353.1:c.1548_1559delinsGGAGAGCAACGC	ENSP00000490441.1:p.Met516=
ENST00000637602.1:c.*1249_*1260delinsGGAGAGCAACGC	ENSP00000490074.1:n.*1249_*1260delinsGGAGAGCAACGC
ENST00000637849.1:n.1612_1623delinsGGAGAGCAACGC
ENST00000637892.1:n.1752_1763delinsGGAGAGCAACGC
ENST00000371068.9:c.1548_1559delinsGGAGAGCAACGC	ENSP00000360107.4:p.Met516=
ENST00000480623.5:c.*1968_*1979delinsGGAGAGCAACGC	ENSP00000434498.1:n.*1968_*1979delinsGGAGAGCAACGC
ENST00000538167.2:c.1491_1502delinsGGAGAGCAACGC	ENSP00000444521.1:p.Met497=
NM_001172420.1:c.1491_1502delinsGGAGAGCAACGC	NP_001165891.1:p.Met497=
NM_018100.3:c.1548_1559delinsGGAGAGCAACGC	NP_060570.2:p.Met516=
NR_033327.1:n.3020_3031delinsGGAGAGCAACGC
NM_018100.4:c.1548_1559delinsGGAGAGCAACGC MANE Select	NP_060570.2:p.Met516=
NM_001172420.2:c.1491_1502delinsGGAGAGCAACGC	NP_001165891.1:p.Met497=
NR_033327.2:n.2874_2885delinsGGAGAGCAACGC