Linked Data
ClinVar Variation Id:
163337
ClinVar RCV Id:
RCV000150616
dbSNP Id:
rs727503014
COSMIC:
COSM85798
MyVariant Identifiers:
chr7:g.55242460_55242479delinsGTCAA (hg19)
chr7:g.55174767_55174786delinsGTCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174767_55174786delinsGTCAA , CM000669.2:g.55174767_55174786delinsGTCAA | GRCh38 |
| NC_000007.13:g.55242460_55242479delinsGTCAA , CM000669.1:g.55242460_55242479delinsGTCAA | GRCh37 |
| NC_000007.12:g.55209954_55209973delinsGTCAA | NCBI36 |
| NG_007726.3:g.160736_160755delinsGTCAA , LRG_304:g.160736_160755delinsGTCAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2071_2090delinsGTCAA | ENSP00000413354.2:p.Ile691_Ala697delinsVa... | |
| ENST00000700145.1:c.579_598delinsGTCAA | ||
| ENST00000275493.7:c.2230_2249delinsGTCAA MANE Select | ENSP00000275493.2:p.Ile744_Ala750delinsVa... | |
| ENST00000275493.6:c.2230_2249delinsGTCAA | ENSP00000275493.2:p.Ile744_Ala750delinsVa... | |
| ENST00000442591.5:c.*28+1839_*28+1858delinsGTCAA | ENSP00000410031.1:n.*28+1839_*28+1858deli... | |
| ENST00000454757.6:c.2095_2114delinsGTCAA | ENSP00000395243.3:p.Ile699_Ala705delinsVa... | |
| ENST00000455089.5:c.2095_2114delinsGTCAA | ENSP00000415559.1:p.Ile699_Ala705delinsVa... | |
| NM_005228.3:c.2230_2249delinsGTCAA , LRG_304t1:c.2230_2249delinsGTCAA | NP_005219.2:p.Ile744_Ala750delinsValLys | |
| NM_001346897.1:c.2095_2114delinsGTCAA | NP_001333826.1:p.Ile699_Ala705delinsValLy... | |
| NM_001346898.1:c.2230_2249delinsGTCAA | NP_001333827.1:p.Ile744_Ala750delinsValLy... | |
| NM_001346899.1:c.2095_2114delinsGTCAA | NP_001333828.1:p.Ile699_Ala705delinsValLy... | |
| NM_001346900.1:c.2071_2090delinsGTCAA | NP_001333829.1:p.Ile691_Ala697delinsValLy... | |
| NM_001346941.1:c.1429_1448delinsGTCAA | NP_001333870.1:p.Ile477_Ala483delinsValLy... | |
| NM_005228.4:c.2230_2249delinsGTCAA | NP_005219.2:p.Ile744_Ala750delinsValLys | |
| NM_005228.5:c.2230_2249delinsGTCAA MANE Select | NP_005219.2:p.Ile744_Ala750delinsValLys | |
| NM_001346897.2:c.2095_2114delinsGTCAA | NP_001333826.1:p.Ile699_Ala705delinsValLy... | |
| NM_001346898.2:c.2230_2249delinsGTCAA | NP_001333827.1:p.Ile744_Ala750delinsValLy... | |
| NM_001346900.2:c.2071_2090delinsGTCAA | NP_001333829.1:p.Ile691_Ala697delinsValLy... | |
| NM_001346941.2:c.1429_1448delinsGTCAA | NP_001333870.1:p.Ile477_Ala483delinsValLy... | |
| NM_001346899.2:c.2095_2114delinsGTCAA | NP_001333828.1:p.Ile699_Ala705delinsValLy... |