Canonical Allele Identifier: CA3856129

Gene: EFHC1

Linked Data

• dbSNP Id: rs757005175
• ExAC: 6:52344538 T / TCAGAAC
• gnomAD v2: 6-52344538-T-TCAGAAC
• gnomAD v4: 6-52479740-T-TCAGAAC
• MyVariant Identifiers: chr6:g.52344538_52344539insCAGAAC (hg19) ; chr6:g.52479740_52479741insCAGAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479743_52479748dup , CM000668.2:g.52479743_52479748dup	GRCh38
NC_000006.11:g.52344541_52344546dup , CM000668.1:g.52344541_52344546dup	GRCh37
NC_000006.10:g.52452500_52452505dup	NCBI36
NG_016760.1:g.64548_64553dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1596_1601dup MANE Select	ENSP00000360107.4:p.Asn533_His534insGlnAsn
ENST00000480623.6:c.1596_1601dup	ENSP00000434498.2:p.Asn533_His534insGlnAsn
ENST00000635760.1:c.1272_1277dup	ENSP00000489765.1:p.Asn425_His426insGlnAsn
ENST00000635812.1:c.*897_*902dup	ENSP00000490859.1:n.*897_*902dup
ENST00000635866.1:c.*1465_*1470dup	ENSP00000489866.1:n.*1465_*1470dup
ENST00000635911.1:n.3114_3119dup
ENST00000635984.1:c.1272_1277dup	ENSP00000489921.1:p.Asn425_His426insGlnAsn
ENST00000635996.1:c.1596_1601dup	ENSP00000490256.1:p.Asn533_His534insGlnAsn
ENST00000636107.1:c.1596_1601dup	ENSP00000489680.1:p.Asn533_His534insGlnAsn
ENST00000636311.1:n.1490_1495dup
ENST00000636343.1:c.1262_1267dup
ENST00000636379.1:c.1308_1313dup	ENSP00000490622.1:p.Asn437_His438insGlnAsn
ENST00000636398.1:c.1296_1301dup	ENSP00000489654.1:n.1296_1301dup
ENST00000636489.1:c.1539_1544dup	ENSP00000489998.1:p.Asn514_His515insGlnAsn
ENST00000636616.1:n.1157_1162dup
ENST00000636702.1:c.1566_1571dup	ENSP00000489623.1:p.Asn523_His524insGlnAsn
ENST00000636954.1:c.1539_1544dup	ENSP00000489966.1:p.Asn514_His515insGlnAsn
ENST00000637089.1:c.1596_1601dup	ENSP00000489854.1:p.Asn533_His534insGlnAsn
ENST00000637121.1:n.1398_1403dup
ENST00000637263.1:c.1596_1601dup	ENSP00000489700.1:p.Asn533_His534insGlnAsn
ENST00000637340.1:n.3521_3526dup
ENST00000637353.1:c.1596_1601dup	ENSP00000490441.1:p.Asn533_His534insGlnAsn
ENST00000637602.1:c.*1297_*1302dup	ENSP00000490074.1:n.*1297_*1302dup
ENST00000637849.1:n.1660_1665dup
ENST00000637892.1:n.1800_1805dup
ENST00000371068.9:c.1596_1601dup	ENSP00000360107.4:p.Asn533_His534insGlnAsn
ENST00000480623.5:c.*2016_*2021dup	ENSP00000434498.1:n.*2016_*2021dup
ENST00000538167.2:c.1539_1544dup	ENSP00000444521.1:p.Asn514_His515insGlnAsn
NM_001172420.1:c.1539_1544dup	NP_001165891.1:p.Asn514_His515insGlnAsn
NM_018100.3:c.1596_1601dup	NP_060570.2:p.Asn533_His534insGlnAsn
NR_033327.1:n.3068_3073dup
NM_018100.4:c.1596_1601dup MANE Select	NP_060570.2:p.Asn533_His534insGlnAsn
NM_001172420.2:c.1539_1544dup	NP_001165891.1:p.Asn514_His515insGlnAsn
NR_033327.2:n.2922_2927dup