HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137566961_137566962insACCAT , CM000685.2:g.137566961_137566962insACCAT | GRCh38 |
NC_000023.10:g.136649120_136649121insACCAT , CM000685.1:g.136649120_136649121insACCAT | GRCh37 |
NC_000023.9:g.136476786_136476787insACCAT | NCBI36 |
NG_008115.1:g.5775_5776insACCAT | |
NG_008115.2:g.5835_5836insACCAT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.270_271insACCAT MANE Select | ENSP00000287538.5:p.His91ThrfsTer? | |
ENST00000287538.9:c.270_271insACCAT | ENSP00000287538.5:p.His91ThrfsTer? | |
ENST00000370606.3:c.270_271insACCAT | ENSP00000359638.3:p.His91ThrfsTer? | |
NM_003413.3:c.270_271insACCAT | NP_003404.1:p.His91ThrfsTer? | |
NM_001330661.1:c.270_271insACCAT | NP_001317590.1:p.His91ThrfsTer? | |
NM_003413.4:c.270_271insACCAT MANE Select | NP_003404.1:p.His91ThrfsTer? |