Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724285_19724286delinsTG , CM000684.2:g.19724285_19724286delinsTG | GRCh38 |
| NC_000022.10:g.19711808_19711809delinsTG , CM000684.1:g.19711808_19711809delinsTG | GRCh37 |
| NC_000022.9:g.18091808_18091809delinsTG | NCBI36 |
| NG_007974.1:g.5743_5744delinsTG , LRG_478:g.5743_5744delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.442_443delinsTG (GP1BB) MANE Select | ENSP00000383382.2:p.Trp148= | |
| ENST00000366425.3:c.442_443delinsTG (GP1BB) | ENSP00000383382.2:p.Trp148= | |
| ENST00000431044.5:c.*1527_*1528delinsTG (SEPTIN5) | ENSP00000399685.1:n.*1527_*1528delinsTG | |
| NM_000407.4:c.442_443delinsTG , LRG_478t1:c.442_443delinsTG (GP1BB) | NP_000398.1:p.Trp148= | |
| NR_037611.1:n.4182_4183delinsTG | ||
| NR_037612.1:n.2686_2687delinsTG | ||
| NM_000407.5:c.442_443delinsTG (GP1BB) MANE Select | NP_000398.1:p.Trp148= |