Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724316_19724317delinsTG , CM000684.2:g.19724316_19724317delinsTG | GRCh38 |
| NC_000022.10:g.19711839_19711840delinsTG , CM000684.1:g.19711839_19711840delinsTG | GRCh37 |
| NC_000022.9:g.18091839_18091840delinsTG | NCBI36 |
| NG_007974.1:g.5774_5775delinsTG , LRG_478:g.5774_5775delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.473_474delinsTG (GP1BB) MANE Select | ENSP00000383382.2:p.Leu158= | |
| ENST00000366425.3:c.473_474delinsTG (GP1BB) | ENSP00000383382.2:p.Leu158= | |
| ENST00000431044.5:c.*1558_*1559delinsTG (SEPTIN5) | ENSP00000399685.1:n.*1558_*1559delinsTG | |
| NM_000407.4:c.473_474delinsTG , LRG_478t1:c.473_474delinsTG (GP1BB) | NP_000398.1:p.Leu158= | |
| NR_037611.1:n.4213_4214delinsTG | ||
| NR_037612.1:n.2717_2718delinsTG | ||
| NM_000407.5:c.473_474delinsTG (GP1BB) MANE Select | NP_000398.1:p.Leu158= |