Canonical Allele Identifier: CA2578647222

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479154dup , CM000668.2:g.52479154dup	GRCh38
NC_000006.11:g.52343952dup , CM000668.1:g.52343952dup	GRCh37
NC_000006.10:g.52451911dup	NCBI36
NG_016760.1:g.63959dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1396dup MANE Select	ENSP00000360107.4:p.Tyr466LeufsTer6
ENST00000480623.6:c.1396dup	ENSP00000434498.2:p.Tyr466LeufsTer6
ENST00000635760.1:c.1072dup	ENSP00000489765.1:p.Tyr358LeufsTer6
ENST00000635812.1:c.*697dup	ENSP00000490859.1:n.*697dup
ENST00000635866.1:c.*1265dup	ENSP00000489866.1:n.*1265dup
ENST00000635911.1:n.2914dup
ENST00000635984.1:c.1072dup	ENSP00000489921.1:p.Tyr358LeufsTer6
ENST00000635996.1:c.1396dup	ENSP00000490256.1:p.Tyr466LeufsTer6
ENST00000636107.1:c.1396dup	ENSP00000489680.1:p.Tyr466LeufsTer6
ENST00000636311.1:n.1290dup
ENST00000636343.1:c.1062dup
ENST00000636379.1:c.1108dup	ENSP00000490622.1:p.Tyr370LeufsTer6
ENST00000636398.1:c.1096dup	ENSP00000489654.1:n.1096dup
ENST00000636489.1:c.1339dup	ENSP00000489998.1:p.Tyr447LeufsTer6
ENST00000636616.1:n.957dup
ENST00000636702.1:c.1366dup	ENSP00000489623.1:p.Tyr456LeufsTer6
ENST00000636954.1:c.1339dup	ENSP00000489966.1:p.Tyr447LeufsTer6
ENST00000637089.1:c.1396dup	ENSP00000489854.1:p.Tyr466LeufsTer6
ENST00000637121.1:n.1198dup
ENST00000637263.1:c.1396dup	ENSP00000489700.1:p.Tyr466LeufsTer6
ENST00000637340.1:n.3321dup
ENST00000637353.1:c.1396dup	ENSP00000490441.1:p.Tyr466LeufsTer6
ENST00000637602.1:c.*1097dup	ENSP00000490074.1:n.*1097dup
ENST00000637849.1:n.1460dup
ENST00000637874.1:c.341dup	ENSP00000490348.1:n.341dup
ENST00000637892.1:n.1600dup
ENST00000371068.9:c.1396dup	ENSP00000360107.4:p.Tyr466LeufsTer6
ENST00000480623.5:c.*1816dup	ENSP00000434498.1:n.*1816dup
ENST00000538167.2:c.1339dup	ENSP00000444521.1:p.Tyr447LeufsTer6
NM_001172420.1:c.1339dup	NP_001165891.1:p.Tyr447LeufsTer6
NM_018100.3:c.1396dup	NP_060570.2:p.Tyr466LeufsTer6
NR_033327.1:n.2868dup
NM_018100.4:c.1396dup MANE Select	NP_060570.2:p.Tyr466LeufsTer6
NM_001172420.2:c.1339dup	NP_001165891.1:p.Tyr447LeufsTer6
NR_033327.2:n.2722dup