Canonical Allele Identifier: CA2771057841

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479796_52479797insGGGTG , CM000668.2:g.52479796_52479797insGGGTG	GRCh38
NC_000006.11:g.52344594_52344595insGGGTG , CM000668.1:g.52344594_52344595insGGGTG	GRCh37
NC_000006.10:g.52452553_52452554insGGGTG	NCBI36
NG_016760.1:g.64601_64602insGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1640+9_1640+10insGGGTG MANE Select	ENSP00000360107.4:n.1640+9_1640+10insGGGTG
ENST00000480623.6:c.1640+9_1640+10insGGGTG	ENSP00000434498.2:n.1640+9_1640+10insGGGTG
ENST00000635760.1:c.1316+9_1316+10insGGGTG	ENSP00000489765.1:n.1316+9_1316+10insGGGTG
ENST00000635812.1:c.*941+9_*941+10insGGGTG	ENSP00000490859.1:n.*941+9_*941+10insGGGTG
ENST00000635866.1:c.*1509+9_*1509+10insGGGTG	ENSP00000489866.1:n.*1509+9_*1509+10insGGGTG
ENST00000635911.1:n.3158+9_3158+10insGGGTG
ENST00000635984.1:c.1316+9_1316+10insGGGTG	ENSP00000489921.1:n.1316+9_1316+10insGGGTG
ENST00000635996.1:c.1640+9_1640+10insGGGTG	ENSP00000490256.1:n.1640+9_1640+10insGGGTG
ENST00000636107.1:c.1640+9_1640+10insGGGTG	ENSP00000489680.1:n.1640+9_1640+10insGGGTG
ENST00000636311.1:n.1534+9_1534+10insGGGTG
ENST00000636343.1:c.1306+9_1306+10insGGGTG
ENST00000636379.1:c.1352+9_1352+10insGGGTG	ENSP00000490622.1:n.1352+9_1352+10insGGGTG
ENST00000636398.1:c.1340+9_1340+10insGGGTG	ENSP00000489654.1:n.1340+9_1340+10insGGGTG
ENST00000636489.1:c.1583+9_1583+10insGGGTG	ENSP00000489998.1:n.1583+9_1583+10insGGGTG
ENST00000636616.1:n.1201+9_1201+10insGGGTG
ENST00000636702.1:c.1610+9_1610+10insGGGTG	ENSP00000489623.1:n.1610+9_1610+10insGGGTG
ENST00000636954.1:c.1583+9_1583+10insGGGTG	ENSP00000489966.1:n.1583+9_1583+10insGGGTG
ENST00000637089.1:c.1640+9_1640+10insGGGTG	ENSP00000489854.1:n.1640+9_1640+10insGGGTG
ENST00000637121.1:n.1442+9_1442+10insGGGTG
ENST00000637263.1:c.1649_1650insGGGTG	ENSP00000489700.1:p.Phe550LeufsTer24
ENST00000637340.1:n.3565+9_3565+10insGGGTG
ENST00000637353.1:c.1640+9_1640+10insGGGTG	ENSP00000490441.1:n.1640+9_1640+10insGGGTG
ENST00000637602.1:c.*1341+9_*1341+10insGGGTG	ENSP00000490074.1:n.*1341+9_*1341+10insGGGTG
ENST00000637849.1:n.1704+9_1704+10insGGGTG
ENST00000637892.1:n.1844+9_1844+10insGGGTG
ENST00000371068.9:c.1640+9_1640+10insGGGTG	ENSP00000360107.4:n.1640+9_1640+10insGGGTG
ENST00000480623.5:c.*2060+9_*2060+10insGGGTG	ENSP00000434498.1:n.*2060+9_*2060+10insGGGTG
ENST00000538167.2:c.1583+9_1583+10insGGGTG	ENSP00000444521.1:n.1583+9_1583+10insGGGTG
NM_001172420.1:c.1583+9_1583+10insGGGTG	NP_001165891.1:n.1583+9_1583+10insGGGTG
NM_018100.3:c.1640+9_1640+10insGGGTG	NP_060570.2:n.1640+9_1640+10insGGGTG
NR_033327.1:n.3112+9_3112+10insGGGTG
NM_018100.4:c.1640+9_1640+10insGGGTG MANE Select	NP_060570.2:n.1640+9_1640+10insGGGTG
NM_001172420.2:c.1583+9_1583+10insGGGTG	NP_001165891.1:n.1583+9_1583+10insGGGTG
NR_033327.2:n.2966+9_2966+10insGGGTG