Canonical Allele Identifier: CA2679102916

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52452743-ATCCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452744_52452748del , CM000668.2:g.52452744_52452748del	GRCh38
NC_000006.11:g.52317542_52317546del , CM000668.1:g.52317542_52317546del	GRCh37
NC_000006.10:g.52425501_52425505del	NCBI36
NG_016760.1:g.37549_37553del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.630_634del MANE Select	ENSP00000360107.4:p.Asp210GlufsTer3
ENST00000480623.6:c.630_634del	ENSP00000434498.2:p.Asp210GlufsTer3
ENST00000635760.1:c.306_310del	ENSP00000489765.1:p.Asp102GlufsTer3
ENST00000635812.1:c.630_634del	ENSP00000490859.1:p.Asp210GlufsTer3
ENST00000635866.1:c.*499_*503del	ENSP00000489866.1:n.*499_*503del
ENST00000635911.1:n.891_895del
ENST00000635984.1:c.306_310del	ENSP00000489921.1:p.Asp102GlufsTer3
ENST00000635996.1:c.630_634del	ENSP00000490256.1:p.Asp210GlufsTer3
ENST00000636107.1:c.630_634del	ENSP00000489680.1:p.Asp210GlufsTer3
ENST00000636253.1:n.284_288del
ENST00000636311.1:n.524_528del
ENST00000636343.1:c.296_300del
ENST00000636379.1:c.342_346del	ENSP00000490622.1:p.Asp114GlufsTer3
ENST00000636398.1:c.297_301del	ENSP00000489654.1:p.Asp99GlufsTer3
ENST00000636489.1:c.573_577del	ENSP00000489998.1:p.Asp191GlufsTer3
ENST00000636702.1:c.600_604del	ENSP00000489623.1:p.Asp200GlufsTer3
ENST00000636954.1:c.573_577del	ENSP00000489966.1:p.Asp191GlufsTer3
ENST00000637089.1:c.630_634del	ENSP00000489854.1:p.Asp210GlufsTer3
ENST00000637200.1:c.*646_*650del	ENSP00000490567.1:n.*646_*650del
ENST00000637263.1:c.630_634del	ENSP00000489700.1:p.Asp210GlufsTer3
ENST00000637340.1:n.1298_1302del
ENST00000637353.1:c.630_634del	ENSP00000490441.1:p.Asp210GlufsTer3
ENST00000637602.1:c.*331_*335del	ENSP00000490074.1:n.*331_*335del
ENST00000637849.1:n.694_698del
ENST00000637892.1:n.834_838del
ENST00000638075.1:c.12_16del	ENSP00000490711.1:p.Asp4GlufsTer3
ENST00000371068.9:c.630_634del	ENSP00000360107.4:p.Asp210GlufsTer3
ENST00000480623.5:c.630_634del	ENSP00000434498.1:p.Asp210GlufsTer3
ENST00000538167.2:c.573_577del	ENSP00000444521.1:p.Asp191GlufsTer3
NM_001172420.1:c.573_577del	NP_001165891.1:p.Asp191GlufsTer3
NM_018100.3:c.630_634del	NP_060570.2:p.Asp210GlufsTer3
NR_033327.1:n.845_849del
NM_018100.4:c.630_634del MANE Select	NP_060570.2:p.Asp210GlufsTer3
NM_001172420.2:c.573_577del	NP_001165891.1:p.Asp191GlufsTer3
NR_033327.2:n.699_703del