Canonical Allele Identifier: CA1089029445

Gene: EFHC1

Linked Data

• dbSNP Id: rs1765630474
• gnomAD v3: 6-52479697-AGAGC-A
• gnomAD v4: 6-52479697-AGAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479698_52479701del , CM000668.2:g.52479698_52479701del	GRCh38
NC_000006.11:g.52344496_52344499del , CM000668.1:g.52344496_52344499del	GRCh37
NC_000006.10:g.52452455_52452458del	NCBI36
NG_016760.1:g.64503_64506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1551_1554del MANE Select	ENSP00000360107.4:p.Ser518ThrfsTer?
ENST00000480623.6:c.1551_1554del	ENSP00000434498.2:p.Ser518ThrfsTer?
ENST00000635760.1:c.1227_1230del	ENSP00000489765.1:p.Ser410ThrfsTer?
ENST00000635812.1:c.*852_*855del	ENSP00000490859.1:n.*852_*855del
ENST00000635866.1:c.*1420_*1423del	ENSP00000489866.1:n.*1420_*1423del
ENST00000635911.1:n.3069_3072del
ENST00000635984.1:c.1227_1230del	ENSP00000489921.1:p.Ser410ThrfsTer?
ENST00000635996.1:c.1551_1554del	ENSP00000490256.1:p.Ser518ThrfsTer?
ENST00000636107.1:c.1551_1554del	ENSP00000489680.1:p.Ser518ThrfsTer?
ENST00000636311.1:n.1445_1448del
ENST00000636343.1:c.1217_1220del
ENST00000636379.1:c.1263_1266del	ENSP00000490622.1:p.Ser422ThrfsTer?
ENST00000636398.1:c.1251_1254del	ENSP00000489654.1:n.1251_1254del
ENST00000636489.1:c.1494_1497del	ENSP00000489998.1:p.Ser499ThrfsTer?
ENST00000636616.1:n.1112_1115del
ENST00000636702.1:c.1521_1524del	ENSP00000489623.1:p.Ser508ThrfsTer?
ENST00000636954.1:c.1494_1497del	ENSP00000489966.1:p.Ser499ThrfsTer?
ENST00000637089.1:c.1551_1554del	ENSP00000489854.1:p.Ser518ThrfsTer?
ENST00000637121.1:n.1353_1356del
ENST00000637263.1:c.1551_1554del	ENSP00000489700.1:p.Ser518ThrfsTer?
ENST00000637340.1:n.3476_3479del
ENST00000637353.1:c.1551_1554del	ENSP00000490441.1:p.Ser518ThrfsTer?
ENST00000637602.1:c.*1252_*1255del	ENSP00000490074.1:n.*1252_*1255del
ENST00000637849.1:n.1615_1618del
ENST00000637892.1:n.1755_1758del
ENST00000371068.9:c.1551_1554del	ENSP00000360107.4:p.Ser518ThrfsTer?
ENST00000480623.5:c.*1971_*1974del	ENSP00000434498.1:n.*1971_*1974del
ENST00000538167.2:c.1494_1497del	ENSP00000444521.1:p.Ser499ThrfsTer?
NM_001172420.1:c.1494_1497del	NP_001165891.1:p.Ser499ThrfsTer?
NM_018100.3:c.1551_1554del	NP_060570.2:p.Ser518ThrfsTer?
NR_033327.1:n.3023_3026del
NM_018100.4:c.1551_1554del MANE Select	NP_060570.2:p.Ser518ThrfsTer?
NM_001172420.2:c.1494_1497del	NP_001165891.1:p.Ser499ThrfsTer?
NR_033327.2:n.2877_2880del