HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73641201_73641202del , CM000664.2:g.73641201_73641202del | GRCh38 |
NC_000002.11:g.73868328_73868329del , CM000664.1:g.73868328_73868329del | GRCh37 |
NC_000002.10:g.73721836_73721837del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272425.4:c.428_429del (NAT8) MANE Select | ENSP00000272425.3:p.Phe143CysfsTer4 | |
ENST00000652439.1:n.119_120del (ALMS1P1) | ||
ENST00000272425.3:c.428_429del (NAT8) | ENSP00000272425.3:p.Phe143CysfsTer4 | |
NM_003960.3:c.428_429del (NAT8) | NP_003951.3:p.Phe143CysfsTer4 | |
NM_003960.4:c.428_429del (NAT8) MANE Select | NP_003951.3:p.Phe143CysfsTer4 |