Linked Data
ClinVar Variation Id:
36190
dbSNP Id:
rs193922274
MyVariant Identifiers:
chr7:g.44184775_44184854delinsTGTAA (hg19)
chr7:g.44145176_44145255delinsTGTAA (hg38)
ERepo:
CA213742/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145176_44145255delinsTGTAA , CM000669.2:g.44145176_44145255delinsTGTAA | GRCh38 |
| NC_000007.13:g.44184775_44184854delinsTGTAA , CM000669.1:g.44184775_44184854delinsTGTAA | GRCh37 |
| NC_000007.12:g.44151300_44151379delinsTGTAA | NCBI36 |
| NG_008847.1:g.49169_49248delinsTTACA | |
| NG_008847.2:g.57916_57995delinsTTACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1277_*1356delinsTTACA | ENSP00000379142.4:n.*1277_*1356delinsTTACA | |
| ENST00000616242.5:c.*399_*478delinsTTACA | ENSP00000482149.2:n.*399_*478delinsTTACA | |
| ENST00000683378.1:n.505_584delinsTTACA | ||
| ENST00000336642.9:c.313_392delinsTTACA | ENSP00000338009.5:p.Val105_Ser131delinsLeuGln | |
| ENST00000345378.7:c.1282_1361delinsTTACA | ENSP00000223366.2:p.Val428_Ser454delinsLeuGln | |
| ENST00000403799.8:c.1279_1358delinsTTACA MANE Select | ENSP00000384247.3:p.Val427_Ser453delinsLeuGln | |
| ENST00000671824.1:c.1342_1421delinsTTACA | ENSP00000500264.1:p.Val448_Ser474delinsLeuGln | |
| ENST00000672743.1:n.291_370delinsTTACA | ||
| ENST00000673284.1:c.1279_1358delinsTTACA | ENSP00000499852.1:p.Val427_Ser453delinsLeuGln | |
| ENST00000336642.8:c.331_410delinsTTACA | ENSP00000338009.4:p.Val111_Ser137delinsLeuGln | |
| ENST00000345378.6:c.1282_1361delinsTTACA | ENSP00000223366.2:p.Val428_Ser454delinsLeuGln | |
| ENST00000395796.7:c.1276_1355delinsTTACA | ENSP00000379142.3:p.Val426_Ser452delinsLeuGln | |
| ENST00000403799.7:c.1279_1358delinsTTACA | ENSP00000384247.3:p.Val427_Ser453delinsLeuGln | |
| ENST00000437084.1:c.1228_1307delinsTTACA | ENSP00000402840.1:p.Val410_Ser436delinsLeuGln | |
| ENST00000459642.1:n.659_738delinsTTACA | ||
| ENST00000616242.4:c.1276_1355delinsTTACA | ENSP00000482149.1:p.Val426_Ser452delinsLeuGln | |
| NM_000162.3:c.1279_1358delinsTTACA | NP_000153.1:p.Val427_Ser453delinsLeuGln | |
| NM_033507.1:c.1282_1361delinsTTACA | NP_277042.1:p.Val428_Ser454delinsLeuGln | |
| NM_033508.1:c.1276_1355delinsTTACA | NP_277043.1:p.Val426_Ser452delinsLeuGln | |
| NM_000162.4:c.1279_1358delinsTTACA | NP_000153.1:p.Val427_Ser453delinsLeuGln | |
| NM_001354800.1:c.1279_1358delinsTTACA | NP_001341729.1:p.Val427_Ser453delinsLeuGln | |
| NM_001354801.1:c.268_347delinsTTACA | NP_001341730.1:p.Val90_Ser116delinsLeuGln | |
| NM_001354802.1:c.139_218delinsTTACA | NP_001341731.1:p.Val47_Ser73delinsLeuGln | |
| NM_001354803.1:c.313_392delinsTTACA | NP_001341732.1:p.Val105_Ser131delinsLeuGln | |
| NM_033507.2:c.1282_1361delinsTTACA | NP_277042.1:p.Val428_Ser454delinsLeuGln | |
| NM_033508.2:c.1276_1355delinsTTACA | NP_277043.1:p.Val426_Ser452delinsLeuGln | |
| XM_024446707.1:c.139_218delinsTTACA | XP_024302475.1:p.Val47_Ser73delinsLeuGln | |
| NM_000162.5:c.1279_1358delinsTTACA MANE Select | NP_000153.1:p.Val427_Ser453delinsLeuGln | |
| NM_033507.3:c.1282_1361delinsTTACA | NP_277042.1:p.Val428_Ser454delinsLeuGln | |
| NM_033508.3:c.1276_1355delinsTTACA | NP_277043.1:p.Val426_Ser452delinsLeuGln | |
| NM_001354803.2:c.313_392delinsTTACA | NP_001341732.1:p.Val105_Ser131delinsLeuGln |