HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724437_19724438del , CM000684.2:g.19724437_19724438del | GRCh38 |
NC_000022.10:g.19711960_19711961del , CM000684.1:g.19711960_19711961del | GRCh37 |
NC_000022.9:g.18091960_18091961del | NCBI36 |
NG_007974.1:g.5895_5896del , LRG_478:g.5895_5896del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.594_595del (GP1BB) MANE Select | ENSP00000383382.2:p.Glu199AlafsTer? | |
ENST00000366425.3:c.594_595del (GP1BB) | ENSP00000383382.2:p.Glu199AlafsTer? | |
ENST00000431044.5:c.*1679_*1680del (SEPTIN5) | ENSP00000399685.1:n.*1679_*1680del | |
NM_000407.4:c.594_595del , LRG_478t1:c.594_595del (GP1BB) | NP_000398.1:p.Glu199AlafsTer? | |
NR_037611.1:n.4334_4335del | ||
NR_037612.1:n.2838_2839del | ||
NM_000407.5:c.594_595del (GP1BB) MANE Select | NP_000398.1:p.Glu199AlafsTer? |