Canonical Allele Identifier: CA10627242

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 357481
• ClinVar RCV Id: RCV000324087
• dbSNP Id: rs886061628
• MyVariant Identifiers: chr6:g.52317578_52317583del (hg19) ; chr6:g.52452780_52452785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452780_52452785del , CM000668.2:g.52452780_52452785del	GRCh38
NC_000006.11:g.52317578_52317583del , CM000668.1:g.52317578_52317583del	GRCh37
NC_000006.10:g.52425537_52425542del	NCBI36
NG_016760.1:g.37585_37590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.666_671del MANE Select	ENSP00000360107.4:p.Lys222_Val224delinsAsn
ENST00000480623.6:c.666_671del	ENSP00000434498.2:p.Lys222_Val224delinsAsn
ENST00000635760.1:c.342_347del	ENSP00000489765.1:p.Lys114_Val116delinsAsn
ENST00000635812.1:c.666_671del	ENSP00000490859.1:p.Lys222_Val224delinsAsn
ENST00000635866.1:c.*535_*540del	ENSP00000489866.1:n.*535_*540del
ENST00000635911.1:n.927_932del
ENST00000635984.1:c.342_347del	ENSP00000489921.1:p.Lys114_Val116delinsAsn
ENST00000635996.1:c.666_671del	ENSP00000490256.1:p.Lys222_Val224delinsAsn
ENST00000636107.1:c.666_671del	ENSP00000489680.1:p.Lys222_Val224delinsAsn
ENST00000636253.1:n.320_325del
ENST00000636311.1:n.560_565del
ENST00000636343.1:c.332_337del
ENST00000636379.1:c.378_383del	ENSP00000490622.1:p.Lys126_Val128delinsAsn
ENST00000636398.1:c.333_338del	ENSP00000489654.1:p.Lys111_Val113delinsAsn
ENST00000636489.1:c.609_614del	ENSP00000489998.1:p.Lys203_Val205delinsAsn
ENST00000636702.1:c.636_641del	ENSP00000489623.1:p.Lys212_Val214delinsAsn
ENST00000636954.1:c.609_614del	ENSP00000489966.1:p.Lys203_Val205delinsAsn
ENST00000637089.1:c.666_671del	ENSP00000489854.1:p.Lys222_Val224delinsAsn
ENST00000637200.1:c.*682_*687del	ENSP00000490567.1:n.*682_*687del
ENST00000637263.1:c.666_671del	ENSP00000489700.1:p.Lys222_Val224delinsAsn
ENST00000637340.1:n.1334_1339del
ENST00000637353.1:c.666_671del	ENSP00000490441.1:p.Lys222_Val224delinsAsn
ENST00000637602.1:c.*367_*372del	ENSP00000490074.1:n.*367_*372del
ENST00000637849.1:n.730_735del
ENST00000637892.1:n.870_875del
ENST00000371068.9:c.666_671del	ENSP00000360107.4:p.Lys222_Val224delinsAsn
ENST00000480623.5:c.666_671del	ENSP00000434498.1:p.Lys222_Val224delinsAsn
ENST00000538167.2:c.609_614del	ENSP00000444521.1:p.Lys203_Val205delinsAsn
NM_001172420.1:c.609_614del	NP_001165891.1:p.Lys203_Val205delinsAsn
NM_018100.3:c.666_671del	NP_060570.2:p.Lys222_Val224delinsAsn
NR_033327.1:n.881_886del
NM_018100.4:c.666_671del MANE Select	NP_060570.2:p.Lys222_Val224delinsAsn
NM_001172420.2:c.609_614del	NP_001165891.1:p.Lys203_Val205delinsAsn
NR_033327.2:n.735_740del