Canonical Allele Identifier: CA1628832984
Gene: EFHC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479572_52479573delinsAT , CM000668.2:g.52479572_52479573delinsAT GRCh38
NC_000006.11:g.52344370_52344371delinsAT , CM000668.1:g.52344370_52344371delinsAT GRCh37
NC_000006.10:g.52452329_52452330delinsAT NCBI36
NG_016760.1:g.64377_64378delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1493-68_1493-67delinsAT MANE Select ENSP00000360107.4:n.1493-68_1493-67delinsAT
ENST00000480623.6:c.1493-68_1493-67delinsAT ENSP00000434498.2:n.1493-68_1493-67delinsAT
ENST00000635760.1:c.1169-68_1169-67delinsAT ENSP00000489765.1:n.1169-68_1169-67delinsAT
ENST00000635812.1:c.*794-68_*794-67delinsAT ENSP00000490859.1:n.*794-68_*794-67delinsAT
ENST00000635866.1:c.*1362-68_*1362-67delinsAT ENSP00000489866.1:n.*1362-68_*1362-67delinsAT
ENST00000635911.1:n.3011-68_3011-67delinsAT
ENST00000635984.1:c.1169-68_1169-67delinsAT ENSP00000489921.1:n.1169-68_1169-67delinsAT
ENST00000635996.1:c.1493-68_1493-67delinsAT ENSP00000490256.1:n.1493-68_1493-67delinsAT
ENST00000636107.1:c.1493-68_1493-67delinsAT ENSP00000489680.1:n.1493-68_1493-67delinsAT
ENST00000636311.1:n.1387-68_1387-67delinsAT
ENST00000636343.1:c.1159-68_1159-67delinsAT
ENST00000636379.1:c.1205-68_1205-67delinsAT ENSP00000490622.1:n.1205-68_1205-67delinsAT
ENST00000636398.1:c.1193-68_1193-67delinsAT ENSP00000489654.1:n.1193-68_1193-67delinsAT
ENST00000636489.1:c.1436-68_1436-67delinsAT ENSP00000489998.1:n.1436-68_1436-67delinsAT
ENST00000636616.1:n.1054-68_1054-67delinsAT
ENST00000636702.1:c.1463-68_1463-67delinsAT ENSP00000489623.1:n.1463-68_1463-67delinsAT
ENST00000636954.1:c.1436-68_1436-67delinsAT ENSP00000489966.1:n.1436-68_1436-67delinsAT
ENST00000637089.1:c.1493-68_1493-67delinsAT ENSP00000489854.1:n.1493-68_1493-67delinsAT
ENST00000637121.1:n.1295-68_1295-67delinsAT
ENST00000637263.1:c.1493-68_1493-67delinsAT ENSP00000489700.1:n.1493-68_1493-67delinsAT
ENST00000637340.1:n.3418-68_3418-67delinsAT
ENST00000637353.1:c.1493-68_1493-67delinsAT ENSP00000490441.1:n.1493-68_1493-67delinsAT
ENST00000637602.1:c.*1194-68_*1194-67delinsAT ENSP00000490074.1:n.*1194-68_*1194-67delinsAT
ENST00000637849.1:n.1557-68_1557-67delinsAT
ENST00000637874.1:c.438-68_438-67delinsAT ENSP00000490348.1:n.438-68_438-67delinsAT
ENST00000637892.1:n.1697-68_1697-67delinsAT
ENST00000371068.9:c.1493-68_1493-67delinsAT ENSP00000360107.4:n.1493-68_1493-67delinsAT
ENST00000480623.5:c.*1913-68_*1913-67delinsAT ENSP00000434498.1:n.*1913-68_*1913-67delinsAT
ENST00000538167.2:c.1436-68_1436-67delinsAT ENSP00000444521.1:n.1436-68_1436-67delinsAT
NM_001172420.1:c.1436-68_1436-67delinsAT NP_001165891.1:n.1436-68_1436-67delinsAT
NM_018100.3:c.1493-68_1493-67delinsAT NP_060570.2:n.1493-68_1493-67delinsAT
NR_033327.1:n.2965-68_2965-67delinsAT
NM_018100.4:c.1493-68_1493-67delinsAT MANE Select NP_060570.2:n.1493-68_1493-67delinsAT
NM_001172420.2:c.1436-68_1436-67delinsAT NP_001165891.1:n.1436-68_1436-67delinsAT
NR_033327.2:n.2819-68_2819-67delinsAT