Linked Data
dbSNP Id:
rs773494942
ExAC:
17:29325734 C / CTGA
gnomAD v2:
17-29325734-C-CTGA
MyVariant Identifiers:
chr17:g.29325734_29325735insTGA (hg19)
chr17:g.30998716_30998717insTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30998716_30998717insTGA , CM000679.2:g.30998716_30998717insTGA | GRCh38 |
| NC_000017.10:g.29325734_29325735insTGA , CM000679.1:g.29325734_29325735insTGA | GRCh37 |
| NC_000017.9:g.26349860_26349861insTGA | NCBI36 |
| NG_011701.1:g.32779_32780insTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328381.10:c.824_825insTGA MANE Select | ENSP00000328340.5:p.Ser275_Lys276insAsp | |
| ENST00000324689.8:c.*28_*29insTGA | ENSP00000323693.4:n.*28_*29insTGA | |
| ENST00000328381.9:c.824_825insTGA | ENSP00000328340.5:p.Ser275_Lys276insAsp | |
| ENST00000443677.6:c.*28_*29insTGA | ENSP00000411965.2:n.*28_*29insTGA | |
| ENST00000535306.6:c.*28_*29insTGA | ENSP00000440470.2:n.*28_*29insTGA | |
| NM_001184992.1:c.*28_*29insTGA | NP_001171921.1:n.*28_*29insTGA | |
| NM_032322.3:c.824_825insTGA | NP_115698.3:p.Ser275_Lys276insAsp | |
| NM_197939.1:c.*28_*29insTGA | NP_922921.1:n.*28_*29insTGA | |
| XM_005258043.3:c.281_282insTGA | XP_005258100.1:p.Ser94_Lys95insAsp | |
| XM_006722138.2:c.503_504insTGA | XP_006722201.1:p.Ser168_Lys169insAsp | |
| XM_017025223.1:c.281_282insTGA | XP_016880712.1:p.Ser94_Lys95insAsp | |
| XM_024451000.1:c.281_282insTGA | XP_024306768.1:p.Ser94_Lys95insAsp | |
| XM_024451001.1:c.281_282insTGA | XP_024306769.1:p.Ser94_Lys95insAsp | |
| XR_002958076.1:n.1157_1158insTGA | ||
| XR_002958077.1:n.1092_1093insTGA | ||
| XR_002958078.1:n.929_930insTGA | ||
| NM_032322.4:c.824_825insTGA MANE Select | NP_115698.3:p.Ser275_Lys276insAsp | |
| NM_001184992.2:c.*28_*29insTGA | NP_001171921.1:n.*28_*29insTGA | |
| NM_197939.2:c.*28_*29insTGA | NP_922921.1:n.*28_*29insTGA |