HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724477_19724498del , CM000684.2:g.19724477_19724498del | GRCh38 |
NC_000022.10:g.19712000_19712021del , CM000684.1:g.19712000_19712021del | GRCh37 |
NC_000022.9:g.18092000_18092021del | NCBI36 |
NG_007974.1:g.5935_5956del , LRG_478:g.5935_5956del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.*13_*34del (GP1BB) MANE Select | ENSP00000383382.2:n.*13_*34del | |
ENST00000366425.3:c.*13_*34del (GP1BB) | ENSP00000383382.2:n.*13_*34del | |
ENST00000431044.5:c.*1719_*1740del (SEPTIN5) | ENSP00000399685.1:n.*1719_*1740del | |
NM_000407.4:c.*13_*34del , LRG_478t1:c.*13_*34del (GP1BB) | NP_000398.1:n.*13_*34del | |
NR_037611.1:n.4374_4395del | ||
NR_037612.1:n.2878_2899del | ||
NM_000407.5:c.*13_*34del (GP1BB) MANE Select | NP_000398.1:n.*13_*34del |