Canonical Allele Identifier: CA2771057840

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479793_52479794insTGG , CM000668.2:g.52479793_52479794insTGG	GRCh38
NC_000006.11:g.52344591_52344592insTGG , CM000668.1:g.52344591_52344592insTGG	GRCh37
NC_000006.10:g.52452550_52452551insTGG	NCBI36
NG_016760.1:g.64598_64599insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1640+6_1640+7insTGG MANE Select	ENSP00000360107.4:n.1640+6_1640+7insTGG
ENST00000480623.6:c.1640+6_1640+7insTGG	ENSP00000434498.2:n.1640+6_1640+7insTGG
ENST00000635760.1:c.1316+6_1316+7insTGG	ENSP00000489765.1:n.1316+6_1316+7insTGG
ENST00000635812.1:c.*941+6_*941+7insTGG	ENSP00000490859.1:n.*941+6_*941+7insTGG
ENST00000635866.1:c.*1509+6_*1509+7insTGG	ENSP00000489866.1:n.*1509+6_*1509+7insTGG
ENST00000635911.1:n.3158+6_3158+7insTGG
ENST00000635984.1:c.1316+6_1316+7insTGG	ENSP00000489921.1:n.1316+6_1316+7insTGG
ENST00000635996.1:c.1640+6_1640+7insTGG	ENSP00000490256.1:n.1640+6_1640+7insTGG
ENST00000636107.1:c.1640+6_1640+7insTGG	ENSP00000489680.1:n.1640+6_1640+7insTGG
ENST00000636311.1:n.1534+6_1534+7insTGG
ENST00000636343.1:c.1306+6_1306+7insTGG
ENST00000636379.1:c.1352+6_1352+7insTGG	ENSP00000490622.1:n.1352+6_1352+7insTGG
ENST00000636398.1:c.1340+6_1340+7insTGG	ENSP00000489654.1:n.1340+6_1340+7insTGG
ENST00000636489.1:c.1583+6_1583+7insTGG	ENSP00000489998.1:n.1583+6_1583+7insTGG
ENST00000636616.1:n.1201+6_1201+7insTGG
ENST00000636702.1:c.1610+6_1610+7insTGG	ENSP00000489623.1:n.1610+6_1610+7insTGG
ENST00000636954.1:c.1583+6_1583+7insTGG	ENSP00000489966.1:n.1583+6_1583+7insTGG
ENST00000637089.1:c.1640+6_1640+7insTGG	ENSP00000489854.1:n.1640+6_1640+7insTGG
ENST00000637121.1:n.1442+6_1442+7insTGG
ENST00000637263.1:c.1646_1647insTGG	ENSP00000489700.1:p.Val549_Phe550insGly
ENST00000637340.1:n.3565+6_3565+7insTGG
ENST00000637353.1:c.1640+6_1640+7insTGG	ENSP00000490441.1:n.1640+6_1640+7insTGG
ENST00000637602.1:c.*1341+6_*1341+7insTGG	ENSP00000490074.1:n.*1341+6_*1341+7insTGG
ENST00000637849.1:n.1704+6_1704+7insTGG
ENST00000637892.1:n.1844+6_1844+7insTGG
ENST00000371068.9:c.1640+6_1640+7insTGG	ENSP00000360107.4:n.1640+6_1640+7insTGG
ENST00000480623.5:c.*2060+6_*2060+7insTGG	ENSP00000434498.1:n.*2060+6_*2060+7insTGG
ENST00000538167.2:c.1583+6_1583+7insTGG	ENSP00000444521.1:n.1583+6_1583+7insTGG
NM_001172420.1:c.1583+6_1583+7insTGG	NP_001165891.1:n.1583+6_1583+7insTGG
NM_018100.3:c.1640+6_1640+7insTGG	NP_060570.2:n.1640+6_1640+7insTGG
NR_033327.1:n.3112+6_3112+7insTGG
NM_018100.4:c.1640+6_1640+7insTGG MANE Select	NP_060570.2:n.1640+6_1640+7insTGG
NM_001172420.2:c.1583+6_1583+7insTGG	NP_001165891.1:n.1583+6_1583+7insTGG
NR_033327.2:n.2966+6_2966+7insTGG