Canonical Allele Identifier: CA138988291

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52343842_52343843insA (hg19) ; chr6:g.52479044_52479045insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479044_52479045insA , CM000668.2:g.52479044_52479045insA	GRCh38
NC_000006.11:g.52343842_52343843insA , CM000668.1:g.52343842_52343843insA	GRCh37
NC_000006.10:g.52451801_52451802insA	NCBI36
NG_016760.1:g.63849_63850insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1286_1287insA MANE Select	ENSP00000360107.4:p.Ile430HisfsTer24
ENST00000480623.6:c.1286_1287insA	ENSP00000434498.2:p.Ile430HisfsTer24
ENST00000635760.1:c.962_963insA	ENSP00000489765.1:p.Ile322HisfsTer24
ENST00000635812.1:c.*587_*588insA	ENSP00000490859.1:n.*587_*588insA
ENST00000635866.1:c.*1155_*1156insA	ENSP00000489866.1:n.*1155_*1156insA
ENST00000635911.1:n.2804_2805insA
ENST00000635984.1:c.962_963insA	ENSP00000489921.1:p.Ile322HisfsTer24
ENST00000635996.1:c.1286_1287insA	ENSP00000490256.1:p.Ile430HisfsTer24
ENST00000636107.1:c.1286_1287insA	ENSP00000489680.1:p.Ile430HisfsTer24
ENST00000636311.1:n.1180_1181insA
ENST00000636343.1:c.952_953insA
ENST00000636379.1:c.998_999insA	ENSP00000490622.1:p.Ile334HisfsTer24
ENST00000636398.1:c.986_987insA	ENSP00000489654.1:n.986_987insA
ENST00000636489.1:c.1229_1230insA	ENSP00000489998.1:p.Ile411HisfsTer24
ENST00000636616.1:n.895-48_895-47insA
ENST00000636702.1:c.1256_1257insA	ENSP00000489623.1:p.Ile420HisfsTer24
ENST00000636954.1:c.1229_1230insA	ENSP00000489966.1:p.Ile411HisfsTer24
ENST00000637089.1:c.1286_1287insA	ENSP00000489854.1:p.Ile430HisfsTer24
ENST00000637121.1:n.1088_1089insA
ENST00000637263.1:c.1286_1287insA	ENSP00000489700.1:p.Ile430HisfsTer24
ENST00000637340.1:n.3211_3212insA
ENST00000637353.1:c.1286_1287insA	ENSP00000490441.1:p.Ile430HisfsTer24
ENST00000637602.1:c.*987_*988insA	ENSP00000490074.1:n.*987_*988insA
ENST00000637849.1:n.1350_1351insA
ENST00000637874.1:c.231_232insA	ENSP00000490348.1:n.231_232insA
ENST00000637892.1:n.1490_1491insA
ENST00000371068.9:c.1286_1287insA	ENSP00000360107.4:p.Ile430HisfsTer24
ENST00000480623.5:c.*1706_*1707insA	ENSP00000434498.1:n.*1706_*1707insA
ENST00000538167.2:c.1229_1230insA	ENSP00000444521.1:p.Ile411HisfsTer24
NM_001172420.1:c.1229_1230insA	NP_001165891.1:p.Ile411HisfsTer24
NM_018100.3:c.1286_1287insA	NP_060570.2:p.Ile430HisfsTer24
NR_033327.1:n.2758_2759insA
NM_018100.4:c.1286_1287insA MANE Select	NP_060570.2:p.Ile430HisfsTer24
NM_001172420.2:c.1229_1230insA	NP_001165891.1:p.Ile411HisfsTer24
NR_033327.2:n.2612_2613insA