Canonical Allele Identifier: CA1628833620

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479961_52479967delinsTTTCAAC , CM000668.2:g.52479961_52479967delinsTTTCAAC	GRCh38
NC_000006.11:g.52344759_52344765delinsTTTCAAC , CM000668.1:g.52344759_52344765delinsTTTCAAC	GRCh37
NC_000006.10:g.52452718_52452724delinsTTTCAAC	NCBI36
NG_016760.1:g.64766_64772delinsTTTCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1640+174_1640+180delinsTTTCAAC MANE Select	ENSP00000360107.4:n.1640+174_1640+180delinsTTTCAAC
ENST00000480623.6:c.1640+174_1640+180delinsTTTCAAC	ENSP00000434498.2:n.1640+174_1640+180delinsTTTCAAC
ENST00000635760.1:c.1316+174_1316+180delinsTTTCAAC	ENSP00000489765.1:n.1316+174_1316+180delinsTTTCAAC
ENST00000635812.1:c.*941+174_*941+180delinsTTTCAAC	ENSP00000490859.1:n.*941+174_*941+180delinsTTTCAAC
ENST00000635866.1:c.*1509+174_*1509+180delinsTTTCAAC	ENSP00000489866.1:n.*1509+174_*1509+180delinsTTTCAAC
ENST00000635911.1:n.3158+174_3158+180delinsTTTCAAC
ENST00000635984.1:c.1316+174_1316+180delinsTTTCAAC	ENSP00000489921.1:n.1316+174_1316+180delinsTTTCAAC
ENST00000635996.1:c.1640+174_1640+180delinsTTTCAAC	ENSP00000490256.1:n.1640+174_1640+180delinsTTTCAAC
ENST00000636107.1:c.1640+174_1640+180delinsTTTCAAC	ENSP00000489680.1:n.1640+174_1640+180delinsTTTCAAC
ENST00000636311.1:n.1534+174_1534+180delinsTTTCAAC
ENST00000636343.1:c.1306+174_1306+180delinsTTTCAAC
ENST00000636379.1:c.1352+174_1352+180delinsTTTCAAC	ENSP00000490622.1:n.1352+174_1352+180delinsTTTCAAC
ENST00000636398.1:c.1340+174_1340+180delinsTTTCAAC	ENSP00000489654.1:n.1340+174_1340+180delinsTTTCAAC
ENST00000636489.1:c.1583+174_1583+180delinsTTTCAAC	ENSP00000489998.1:n.1583+174_1583+180delinsTTTCAAC
ENST00000636616.1:n.1201+174_1201+180delinsTTTCAAC
ENST00000636702.1:c.1610+174_1610+180delinsTTTCAAC	ENSP00000489623.1:n.1610+174_1610+180delinsTTTCAAC
ENST00000636954.1:c.1583+174_1583+180delinsTTTCAAC	ENSP00000489966.1:n.1583+174_1583+180delinsTTTCAAC
ENST00000637089.1:c.1640+174_1640+180delinsTTTCAAC	ENSP00000489854.1:n.1640+174_1640+180delinsTTTCAAC
ENST00000637121.1:n.1442+174_1442+180delinsTTTCAAC
ENST00000637263.1:c.*155_*161delinsTTTCAAC	ENSP00000489700.1:n.*155_*161delinsTTTCAAC
ENST00000637340.1:n.3565+174_3565+180delinsTTTCAAC
ENST00000637353.1:c.1640+174_1640+180delinsTTTCAAC	ENSP00000490441.1:n.1640+174_1640+180delinsTTTCAAC
ENST00000637602.1:c.*1341+174_*1341+180delinsTTTCAAC	ENSP00000490074.1:n.*1341+174_*1341+180delinsTTTCAAC
ENST00000637849.1:n.1704+174_1704+180delinsTTTCAAC
ENST00000637892.1:n.1844+174_1844+180delinsTTTCAAC
ENST00000371068.9:c.1640+174_1640+180delinsTTTCAAC	ENSP00000360107.4:n.1640+174_1640+180delinsTTTCAAC
ENST00000480623.5:c.*2060+174_*2060+180delinsTTTCAAC	ENSP00000434498.1:n.*2060+174_*2060+180delinsTTTCAAC
ENST00000538167.2:c.1583+174_1583+180delinsTTTCAAC	ENSP00000444521.1:n.1583+174_1583+180delinsTTTCAAC
NM_001172420.1:c.1583+174_1583+180delinsTTTCAAC	NP_001165891.1:n.1583+174_1583+180delinsTTTCAAC
NM_018100.3:c.1640+174_1640+180delinsTTTCAAC	NP_060570.2:n.1640+174_1640+180delinsTTTCAAC
NR_033327.1:n.3112+174_3112+180delinsTTTCAAC
NM_018100.4:c.1640+174_1640+180delinsTTTCAAC MANE Select	NP_060570.2:n.1640+174_1640+180delinsTTTCAAC
NM_001172420.2:c.1583+174_1583+180delinsTTTCAAC	NP_001165891.1:n.1583+174_1583+180delinsTTTCAAC
NR_033327.2:n.2966+174_2966+180delinsTTTCAAC