Linked Data
dbSNP Id:
rs1566558906
gnomAD v2:
14-24550597-C-CA
gnomAD v4:
14-24081388-C-CA
MyVariant Identifiers:
chr14:g.24550597_24550598insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24081388_24081389insA , CM000676.2:g.24081388_24081389insA | GRCh38 |
| NC_000014.8:g.24550597_24550598insA , CM000676.1:g.24550597_24550598insA | GRCh37 |
| NC_000014.7:g.23620437_23620438insA | NCBI36 |
| NG_011697.1:g.8235_8236insT | |
| NG_011697.2:g.38626_38627insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561028.6:c.561_562insT MANE Select | ENSP00000454062.2:p.Glu188Ter | |
| ENST00000396995.1:c.144_145insT | ENSP00000380191.1:p.Glu49Ter | |
| ENST00000396997.1:c.561_562insT | ENSP00000380193.1:p.Glu188Ter | |
| ENST00000397002.6:c.561_562insT | ENSP00000380197.2:p.Glu188Ter | |
| ENST00000560550.1:c.144_145insT | ENSP00000452966.1:p.Glu49Ter | |
| ENST00000561028.5:c.561_562insT | ENSP00000454062.1:p.Glu188Ter | |
| NM_006177.3:c.561_562insT | NP_006168.1:p.Glu188Ter | |
| XM_005267708.3:c.561_562insT | XP_005267765.1:p.Glu188Ter | |
| XM_005267709.3:c.561_562insT | XP_005267766.1:p.Glu188Ter | |
| XM_005267710.3:c.561_562insT | XP_005267767.1:p.Glu188Ter | |
| XM_011536801.1:c.660_661insT | XP_011535103.1:p.Glu221Ter | |
| XM_011536802.1:c.561_562insT | XP_011535104.1:p.Glu188Ter | |
| XM_011536803.1:c.561_562insT | XP_011535105.1:p.Glu188Ter | |
| XM_011536804.1:c.561_562insT | XP_011535106.1:p.Glu188Ter | |
| XM_011536805.1:c.561_562insT | XP_011535107.1:p.Glu188Ter | |
| XM_011536806.1:c.345_346insT | XP_011535108.1:p.Glu116Ter | |
| NM_001354768.1:c.561_562insT | NP_001341697.1:p.Glu188Ter | |
| NM_001354769.1:c.561_562insT | NP_001341698.1:p.Glu188Ter | |
| NM_001354770.1:c.246_247insT | NP_001341699.1:p.Glu83Ter | |
| NM_006177.4:c.561_562insT | NP_006168.1:p.Glu188Ter | |
| XM_011536801.2:c.867_868insT | XP_011535103.2:p.Glu290Ter | |
| XM_011536804.2:c.561_562insT | XP_011535106.1:p.Glu188Ter | |
| XM_011536805.2:c.561_562insT | XP_011535107.1:p.Glu188Ter | |
| XM_011536806.2:c.552_553insT | XP_011535108.2:p.Glu185Ter | |
| NM_001354768.3:c.561_562insT MANE Select | NP_001341697.1:p.Glu188Ter | |
| NM_001354770.2:c.246_247insT | NP_001341699.1:p.Glu83Ter | |
| NM_006177.5:c.561_562insT | NP_006168.1:p.Glu188Ter |