Canonical Allele Identifier: CA825761728

Gene: EFHC1

Linked Data

• dbSNP Id: rs1355187056
• gnomAD v3: 6-52479792-GTGTT-G
• gnomAD v4: 6-52479792-GTGTT-G
• MyVariant Identifiers: chr6:g.52344591_52344594del (hg19) ; chr6:g.52479793_52479796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479795_52479798del , CM000668.2:g.52479795_52479798del	GRCh38
NC_000006.11:g.52344593_52344596del , CM000668.1:g.52344593_52344596del	GRCh37
NC_000006.10:g.52452552_52452555del	NCBI36
NG_016760.1:g.64600_64603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1640+8_1640+11del MANE Select	ENSP00000360107.4:n.1640+8_1640+11del
ENST00000480623.6:c.1640+8_1640+11del	ENSP00000434498.2:n.1640+8_1640+11del
ENST00000635760.1:c.1316+8_1316+11del	ENSP00000489765.1:n.1316+8_1316+11del
ENST00000635812.1:c.*941+8_*941+11del	ENSP00000490859.1:n.*941+8_*941+11del
ENST00000635866.1:c.*1509+8_*1509+11del	ENSP00000489866.1:n.*1509+8_*1509+11del
ENST00000635911.1:n.3158+8_3158+11del
ENST00000635984.1:c.1316+8_1316+11del	ENSP00000489921.1:n.1316+8_1316+11del
ENST00000635996.1:c.1640+8_1640+11del	ENSP00000490256.1:n.1640+8_1640+11del
ENST00000636107.1:c.1640+8_1640+11del	ENSP00000489680.1:n.1640+8_1640+11del
ENST00000636311.1:n.1534+8_1534+11del
ENST00000636343.1:c.1306+8_1306+11del
ENST00000636379.1:c.1352+8_1352+11del	ENSP00000490622.1:n.1352+8_1352+11del
ENST00000636398.1:c.1340+8_1340+11del	ENSP00000489654.1:n.1340+8_1340+11del
ENST00000636489.1:c.1583+8_1583+11del	ENSP00000489998.1:n.1583+8_1583+11del
ENST00000636616.1:n.1201+8_1201+11del
ENST00000636702.1:c.1610+8_1610+11del	ENSP00000489623.1:n.1610+8_1610+11del
ENST00000636954.1:c.1583+8_1583+11del	ENSP00000489966.1:n.1583+8_1583+11del
ENST00000637089.1:c.1640+8_1640+11del	ENSP00000489854.1:n.1640+8_1640+11del
ENST00000637121.1:n.1442+8_1442+11del
ENST00000637263.1:c.1648_1651del	ENSP00000489700.1:p.Phe550IlefsTer21
ENST00000637340.1:n.3565+8_3565+11del
ENST00000637353.1:c.1640+8_1640+11del	ENSP00000490441.1:n.1640+8_1640+11del
ENST00000637602.1:c.*1341+8_*1341+11del	ENSP00000490074.1:n.*1341+8_*1341+11del
ENST00000637849.1:n.1704+8_1704+11del
ENST00000637892.1:n.1844+8_1844+11del
ENST00000371068.9:c.1640+8_1640+11del	ENSP00000360107.4:n.1640+8_1640+11del
ENST00000480623.5:c.*2060+8_*2060+11del	ENSP00000434498.1:n.*2060+8_*2060+11del
ENST00000538167.2:c.1583+8_1583+11del	ENSP00000444521.1:n.1583+8_1583+11del
NM_001172420.1:c.1583+8_1583+11del	NP_001165891.1:n.1583+8_1583+11del
NM_018100.3:c.1640+8_1640+11del	NP_060570.2:n.1640+8_1640+11del
NR_033327.1:n.3112+8_3112+11del
NM_018100.4:c.1640+8_1640+11del MANE Select	NP_060570.2:n.1640+8_1640+11del
NM_001172420.2:c.1583+8_1583+11del	NP_001165891.1:n.1583+8_1583+11del
NR_033327.2:n.2966+8_2966+11del