Canonical Allele Identifier: CA2679102946

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52452751-A-ATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452751_52452752insTGG , CM000668.2:g.52452751_52452752insTGG	GRCh38
NC_000006.11:g.52317549_52317550insTGG , CM000668.1:g.52317549_52317550insTGG	GRCh37
NC_000006.10:g.52425508_52425509insTGG	NCBI36
NG_016760.1:g.37556_37557insTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.637_638insTGG MANE Select	ENSP00000360107.4:p.Thr213delinsMetAla
ENST00000480623.6:c.637_638insTGG	ENSP00000434498.2:p.Thr213delinsMetAla
ENST00000635760.1:c.313_314insTGG	ENSP00000489765.1:p.Thr105delinsMetAla
ENST00000635812.1:c.637_638insTGG	ENSP00000490859.1:p.Thr213delinsMetAla
ENST00000635866.1:c.*506_*507insTGG	ENSP00000489866.1:n.*506_*507insTGG
ENST00000635911.1:n.898_899insTGG
ENST00000635984.1:c.313_314insTGG	ENSP00000489921.1:p.Thr105delinsMetAla
ENST00000635996.1:c.637_638insTGG	ENSP00000490256.1:p.Thr213delinsMetAla
ENST00000636107.1:c.637_638insTGG	ENSP00000489680.1:p.Thr213delinsMetAla
ENST00000636253.1:n.291_292insTGG
ENST00000636311.1:n.531_532insTGG
ENST00000636343.1:c.303_304insTGG
ENST00000636379.1:c.349_350insTGG	ENSP00000490622.1:p.Thr117delinsMetAla
ENST00000636398.1:c.304_305insTGG	ENSP00000489654.1:p.Thr102delinsMetAla
ENST00000636489.1:c.580_581insTGG	ENSP00000489998.1:p.Thr194delinsMetAla
ENST00000636702.1:c.607_608insTGG	ENSP00000489623.1:p.Thr203delinsMetAla
ENST00000636954.1:c.580_581insTGG	ENSP00000489966.1:p.Thr194delinsMetAla
ENST00000637089.1:c.637_638insTGG	ENSP00000489854.1:p.Thr213delinsMetAla
ENST00000637200.1:c.*653_*654insTGG	ENSP00000490567.1:n.*653_*654insTGG
ENST00000637263.1:c.637_638insTGG	ENSP00000489700.1:p.Thr213delinsMetAla
ENST00000637340.1:n.1305_1306insTGG
ENST00000637353.1:c.637_638insTGG	ENSP00000490441.1:p.Thr213delinsMetAla
ENST00000637602.1:c.*338_*339insTGG	ENSP00000490074.1:n.*338_*339insTGG
ENST00000637849.1:n.701_702insTGG
ENST00000637892.1:n.841_842insTGG
ENST00000638075.1:c.19_20insTGG	ENSP00000490711.1:p.Thr7delinsMetAla
ENST00000371068.9:c.637_638insTGG	ENSP00000360107.4:p.Thr213delinsMetAla
ENST00000480623.5:c.637_638insTGG	ENSP00000434498.1:p.Thr213delinsMetAla
ENST00000538167.2:c.580_581insTGG	ENSP00000444521.1:p.Thr194delinsMetAla
NM_001172420.1:c.580_581insTGG	NP_001165891.1:p.Thr194delinsMetAla
NM_018100.3:c.637_638insTGG	NP_060570.2:p.Thr213delinsMetAla
NR_033327.1:n.852_853insTGG
NM_018100.4:c.637_638insTGG MANE Select	NP_060570.2:p.Thr213delinsMetAla
NM_001172420.2:c.580_581insTGG	NP_001165891.1:p.Thr194delinsMetAla
NR_033327.2:n.706_707insTGG