HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8012178_8012181del , CM000679.2:g.8012178_8012181del | GRCh38 |
NC_000017.10:g.7915496_7915499del , CM000679.1:g.7915496_7915499del | GRCh37 |
NC_000017.9:g.7856221_7856224del | NCBI36 |
NG_009092.1:g.14509_14512del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000254854.5:c.1784_1787del MANE Select | ENSP00000254854.4:p.Tyr595TrpfsTer? | |
ENST00000254854.4:c.1784_1787del | ENSP00000254854.4:p.Tyr595TrpfsTer? | |
NM_000180.3:c.1784_1787del | NP_000171.1:p.Tyr595TrpfsTer? | |
XM_011523816.1:c.1784_1787del | XP_011522118.1:p.Tyr595TrpfsTer? | |
NM_000180.4:c.1784_1787del MANE Select | NP_000171.1:p.Tyr595TrpfsTer? |