Linked Data
dbSNP Id:
rs1755656214
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320832_119320833insTGTC , CM000666.2:g.119320832_119320833insTGTC | GRCh38 |
| NC_000004.11:g.120241987_120241988insTGTC , CM000666.1:g.120241987_120241988insTGTC | GRCh37 |
| NC_000004.10:g.120461435_120461436insTGTC | NCBI36 |
| NG_011444.1:g.6329_6330insGACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.77_78insGACA MANE Select | ENSP00000274024.3:p.Ile26MetfsTer11 | |
| ENST00000274024.3:c.77_78insGACA | ENSP00000274024.3:p.Ile26MetfsTer11 | |
| NM_000134.3:c.77_78insGACA | NP_000125.2:p.Ile26MetfsTer11 | |
| NM_000134.4:c.77_78insGACA MANE Select | NP_000125.2:p.Ile26MetfsTer11 |