HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767517_28767625del , CM000676.2:g.28767517_28767625del | GRCh38 |
NC_000014.8:g.29236723_29236831del , CM000676.1:g.29236723_29236831del | GRCh37 |
NC_000014.7:g.28306474_28306582del | NCBI36 |
NG_009367.1:g.5437_5545del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000706482.1:c.238_346del | ENSP00000516406.1:p.Pro80TrpfsTer? | |
ENST00000313071.7:c.238_346del MANE Select | ENSP00000339004.3:p.Pro80TrpfsTer? | |
ENST00000313071.6:c.238_346del | ENSP00000339004.3:p.Pro80TrpfsTer? | |
NM_005249.4:c.238_346del | NP_005240.3:p.Pro80TrpfsTer? | |
NM_005249.5:c.238_346del MANE Select | NP_005240.3:p.Pro80TrpfsTer? |