Linked Data
gnomAD v4:
1-114709730-T-TGACTGACTGACTGACTGACTGACTGACTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709730_114709731insGACTGACTGACTGACTGACTGACTGACTG , CM000663.2:g.114709730_114709731insGACTGACTGACTGACTGACTGACTGACTG | GRCh38 |
| NC_000001.10:g.115252351_115252352insGACTGACTGACTGACTGACTGACTGACTG , CM000663.1:g.115252351_115252352insGACTGACTGACTGACTGACTGACTGACTG | GRCh37 |
| NC_000001.9:g.115053874_115053875insGACTGACTGACTGACTGACTGACTGACTG | NCBI36 |
| NG_007572.1:g.12164_12165insCAGTCAGTCAGTCAGTCAGTCAGTCAGTC , LRG_92:g.12164_12165insCAGTCAGTCAGTCAGTCAGTCAGTCAGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.291-3_291-2insCAGTCAGTCAGTCAGTCAGTCAGTCAGTC MANE Select | ENSP00000358548.4:n.291-3_291-2insCAGTCAGTCAGTCAGTCAGTCAGTCAG... | |
| ENST00000369535.4:c.291-3_291-2insCAGTCAGTCAGTCAGTCAGTCAGTCAGTC | ENSP00000358548.4:n.291-3_291-2insCAGTCAGTCAGTCAGTCAGTCAGTCAG... | |
| NM_002524.4:c.291-3_291-2insCAGTCAGTCAGTCAGTCAGTCAGTCAGTC | NP_002515.1:n.291-3_291-2insCAGTCAGTCAGTCAGTCAGTCAGTCAGTC | |
| NM_002524.5:c.291-3_291-2insCAGTCAGTCAGTCAGTCAGTCAGTCAGTC MANE Select | NP_002515.1:n.291-3_291-2insCAGTCAGTCAGTCAGTCAGTCAGTCAGTC |