Canonical Allele Identifier: CA1089029557

Gene: EFHC1

Linked Data

• dbSNP Id: rs1765639382
• gnomAD v3: 6-52479961-TTTCAAC-T
• gnomAD v4: 6-52479961-TTTCAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479966_52479971del , CM000668.2:g.52479966_52479971del	GRCh38
NC_000006.11:g.52344764_52344769del , CM000668.1:g.52344764_52344769del	GRCh37
NC_000006.10:g.52452723_52452728del	NCBI36
NG_016760.1:g.64771_64776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1640+179_1640+184del MANE Select	ENSP00000360107.4:n.1640+179_1640+184del
ENST00000480623.6:c.1640+179_1640+184del	ENSP00000434498.2:n.1640+179_1640+184del
ENST00000635760.1:c.1316+179_1316+184del	ENSP00000489765.1:n.1316+179_1316+184del
ENST00000635812.1:c.*941+179_*941+184del	ENSP00000490859.1:n.*941+179_*941+184del
ENST00000635866.1:c.*1509+179_*1509+184del	ENSP00000489866.1:n.*1509+179_*1509+184del
ENST00000635911.1:n.3158+179_3158+184del
ENST00000635984.1:c.1316+179_1316+184del	ENSP00000489921.1:n.1316+179_1316+184del
ENST00000635996.1:c.1640+179_1640+184del	ENSP00000490256.1:n.1640+179_1640+184del
ENST00000636107.1:c.1640+179_1640+184del	ENSP00000489680.1:n.1640+179_1640+184del
ENST00000636311.1:n.1534+179_1534+184del
ENST00000636343.1:c.1306+179_1306+184del
ENST00000636379.1:c.1352+179_1352+184del	ENSP00000490622.1:n.1352+179_1352+184del
ENST00000636398.1:c.1340+179_1340+184del	ENSP00000489654.1:n.1340+179_1340+184del
ENST00000636489.1:c.1583+179_1583+184del	ENSP00000489998.1:n.1583+179_1583+184del
ENST00000636616.1:n.1201+179_1201+184del
ENST00000636702.1:c.1610+179_1610+184del	ENSP00000489623.1:n.1610+179_1610+184del
ENST00000636954.1:c.1583+179_1583+184del	ENSP00000489966.1:n.1583+179_1583+184del
ENST00000637089.1:c.1640+179_1640+184del	ENSP00000489854.1:n.1640+179_1640+184del
ENST00000637121.1:n.1442+179_1442+184del
ENST00000637263.1:c.*160_*165del	ENSP00000489700.1:n.*160_*165del
ENST00000637340.1:n.3565+179_3565+184del
ENST00000637353.1:c.1640+179_1640+184del	ENSP00000490441.1:n.1640+179_1640+184del
ENST00000637602.1:c.*1341+179_*1341+184del	ENSP00000490074.1:n.*1341+179_*1341+184del
ENST00000637849.1:n.1704+179_1704+184del
ENST00000637892.1:n.1844+179_1844+184del
ENST00000371068.9:c.1640+179_1640+184del	ENSP00000360107.4:n.1640+179_1640+184del
ENST00000480623.5:c.*2060+179_*2060+184del	ENSP00000434498.1:n.*2060+179_*2060+184del
ENST00000538167.2:c.1583+179_1583+184del	ENSP00000444521.1:n.1583+179_1583+184del
NM_001172420.1:c.1583+179_1583+184del	NP_001165891.1:n.1583+179_1583+184del
NM_018100.3:c.1640+179_1640+184del	NP_060570.2:n.1640+179_1640+184del
NR_033327.1:n.3112+179_3112+184del
NM_018100.4:c.1640+179_1640+184del MANE Select	NP_060570.2:n.1640+179_1640+184del
NM_001172420.2:c.1583+179_1583+184del	NP_001165891.1:n.1583+179_1583+184del
NR_033327.2:n.2966+179_2966+184del