ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.110264538_110264545delinsGATTAC , CM000685.2:g.110264538_110264545delinsGATTAC | GRCh38 |
| NC_000023.10:g.109507766_109507773delinsGATTAC , CM000685.1:g.109507766_109507773delinsGATTAC | GRCh37 |
| NC_000023.9:g.109394422_109394429delinsGATTAC | NCBI36 |
| NG_016469.1:g.180689_180696delinsGTAATC | |
| NG_016469.2:g.180689_180696delinsGTAATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686065.1:c.528_535delinsGTAATC | ENSP00000509935.1:p.Ile176MetfsTer2 | |
| ENST00000262844.10:c.528_535delinsGTAATC MANE Select | ENSP00000262844.5:p.Ile176MetfsTer2 | |
| ENST00000680410.1:n.495_502delinsGTAATC | ||
| ENST00000262844.9:c.528_535delinsGTAATC | ENSP00000262844.5:p.Ile176MetfsTer2 | |
| ENST00000372057.1:c.159_166delinsGTAATC | ENSP00000361127.1:p.Ile53MetfsTer2 | |
| ENST00000372059.6:c.474-47913_474-47906delinsGTAATC | ENSP00000361129.2:n.474-47913_474-47906delinsGTAATC | |
| ENST00000473662.1:n.228_235delinsGTAATC | ||
| NM_001025580.1:c.474-47913_474-47906delinsGTAATC | NP_001020751.1:n.474-47913_474-47906delinsGTAATC | |
| NM_001171689.1:c.159_166delinsGTAATC | NP_001165160.1:p.Ile53MetfsTer2 | |
| NM_015365.2:c.528_535delinsGTAATC | NP_056180.1:p.Ile176MetfsTer2 | |
| NM_015365.3:c.528_535delinsGTAATC MANE Select | NP_056180.1:p.Ile176MetfsTer2 | |
| NM_001025580.2:c.474-47913_474-47906delinsGTAATC | NP_001020751.1:n.474-47913_474-47906delinsGTAATC | |
| NM_001171689.2:c.159_166delinsGTAATC | NP_001165160.1:p.Ile53MetfsTer2 |