Canonical Allele Identifier: CA2679104418

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479710-C-CCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479711_52479714dup , CM000668.2:g.52479711_52479714dup	GRCh38
NC_000006.11:g.52344509_52344512dup , CM000668.1:g.52344509_52344512dup	GRCh37
NC_000006.10:g.52452468_52452471dup	NCBI36
NG_016760.1:g.64516_64519dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1564_1567dup MANE Select	ENSP00000360107.4:p.Tyr523SerfsTer30
ENST00000480623.6:c.1564_1567dup	ENSP00000434498.2:p.Tyr523SerfsTer?
ENST00000635760.1:c.1240_1243dup	ENSP00000489765.1:p.Tyr415SerfsTer30
ENST00000635812.1:c.*865_*868dup	ENSP00000490859.1:n.*865_*868dup
ENST00000635866.1:c.*1433_*1436dup	ENSP00000489866.1:n.*1433_*1436dup
ENST00000635911.1:n.3082_3085dup
ENST00000635984.1:c.1240_1243dup	ENSP00000489921.1:p.Tyr415SerfsTer?
ENST00000635996.1:c.1564_1567dup	ENSP00000490256.1:p.Tyr523SerfsTer30
ENST00000636107.1:c.1564_1567dup	ENSP00000489680.1:p.Tyr523SerfsTer?
ENST00000636311.1:n.1458_1461dup
ENST00000636343.1:c.1230_1233dup
ENST00000636379.1:c.1276_1279dup	ENSP00000490622.1:p.Tyr427SerfsTer30
ENST00000636398.1:c.1264_1267dup	ENSP00000489654.1:n.1264_1267dup
ENST00000636489.1:c.1507_1510dup	ENSP00000489998.1:p.Tyr504SerfsTer30
ENST00000636616.1:n.1125_1128dup
ENST00000636702.1:c.1534_1537dup	ENSP00000489623.1:p.Tyr513SerfsTer30
ENST00000636954.1:c.1507_1510dup	ENSP00000489966.1:p.Tyr504SerfsTer30
ENST00000637089.1:c.1564_1567dup	ENSP00000489854.1:p.Tyr523SerfsTer30
ENST00000637121.1:n.1366_1369dup
ENST00000637263.1:c.1564_1567dup	ENSP00000489700.1:p.Tyr523SerfsTer30
ENST00000637340.1:n.3489_3492dup
ENST00000637353.1:c.1564_1567dup	ENSP00000490441.1:p.Tyr523SerfsTer30
ENST00000637602.1:c.*1265_*1268dup	ENSP00000490074.1:n.*1265_*1268dup
ENST00000637849.1:n.1628_1631dup
ENST00000637892.1:n.1768_1771dup
ENST00000371068.9:c.1564_1567dup	ENSP00000360107.4:p.Tyr523SerfsTer30
ENST00000480623.5:c.*1984_*1987dup	ENSP00000434498.1:n.*1984_*1987dup
ENST00000538167.2:c.1507_1510dup	ENSP00000444521.1:p.Tyr504SerfsTer30
NM_001172420.1:c.1507_1510dup	NP_001165891.1:p.Tyr504SerfsTer30
NM_018100.3:c.1564_1567dup	NP_060570.2:p.Tyr523SerfsTer30
NR_033327.1:n.3036_3039dup
NM_018100.4:c.1564_1567dup MANE Select	NP_060570.2:p.Tyr523SerfsTer30
NM_001172420.2:c.1507_1510dup	NP_001165891.1:p.Tyr504SerfsTer30
NR_033327.2:n.2890_2893dup