Canonical Allele Identifier: CA1089029461

Gene: EFHC1

Linked Data

• dbSNP Id: rs1765631112
• gnomAD v3: 6-52479706-C-CA
• gnomAD v4: 6-52479706-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479706_52479707insA , CM000668.2:g.52479706_52479707insA	GRCh38
NC_000006.11:g.52344504_52344505insA , CM000668.1:g.52344504_52344505insA	GRCh37
NC_000006.10:g.52452463_52452464insA	NCBI36
NG_016760.1:g.64511_64512insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1559_1560insA MANE Select	ENSP00000360107.4:p.Ala521CysfsTer?
ENST00000480623.6:c.1559_1560insA	ENSP00000434498.2:p.Ala521CysfsTer?
ENST00000635760.1:c.1235_1236insA	ENSP00000489765.1:p.Ala413CysfsTer?
ENST00000635812.1:c.*860_*861insA	ENSP00000490859.1:n.*860_*861insA
ENST00000635866.1:c.*1428_*1429insA	ENSP00000489866.1:n.*1428_*1429insA
ENST00000635911.1:n.3077_3078insA
ENST00000635984.1:c.1235_1236insA	ENSP00000489921.1:p.Ala413CysfsTer?
ENST00000635996.1:c.1559_1560insA	ENSP00000490256.1:p.Ala521CysfsTer?
ENST00000636107.1:c.1559_1560insA	ENSP00000489680.1:p.Ala521CysfsTer?
ENST00000636311.1:n.1453_1454insA
ENST00000636343.1:c.1225_1226insA
ENST00000636379.1:c.1271_1272insA	ENSP00000490622.1:p.Ala425CysfsTer?
ENST00000636398.1:c.1259_1260insA	ENSP00000489654.1:n.1259_1260insA
ENST00000636489.1:c.1502_1503insA	ENSP00000489998.1:p.Ala502CysfsTer?
ENST00000636616.1:n.1120_1121insA
ENST00000636702.1:c.1529_1530insA	ENSP00000489623.1:p.Ala511CysfsTer?
ENST00000636954.1:c.1502_1503insA	ENSP00000489966.1:p.Ala502CysfsTer?
ENST00000637089.1:c.1559_1560insA	ENSP00000489854.1:p.Ala521CysfsTer?
ENST00000637121.1:n.1361_1362insA
ENST00000637263.1:c.1559_1560insA	ENSP00000489700.1:p.Ala521CysfsTer?
ENST00000637340.1:n.3484_3485insA
ENST00000637353.1:c.1559_1560insA	ENSP00000490441.1:p.Ala521CysfsTer?
ENST00000637602.1:c.*1260_*1261insA	ENSP00000490074.1:n.*1260_*1261insA
ENST00000637849.1:n.1623_1624insA
ENST00000637892.1:n.1763_1764insA
ENST00000371068.9:c.1559_1560insA	ENSP00000360107.4:p.Ala521CysfsTer?
ENST00000480623.5:c.*1979_*1980insA	ENSP00000434498.1:n.*1979_*1980insA
ENST00000538167.2:c.1502_1503insA	ENSP00000444521.1:p.Ala502CysfsTer?
NM_001172420.1:c.1502_1503insA	NP_001165891.1:p.Ala502CysfsTer?
NM_018100.3:c.1559_1560insA	NP_060570.2:p.Ala521CysfsTer?
NR_033327.1:n.3031_3032insA
NM_018100.4:c.1559_1560insA MANE Select	NP_060570.2:p.Ala521CysfsTer?
NM_001172420.2:c.1502_1503insA	NP_001165891.1:p.Ala502CysfsTer?
NR_033327.2:n.2885_2886insA