HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740696_67740697del , CM000666.2:g.67740696_67740697del | GRCh38 |
NC_000004.11:g.68606414_68606415del , CM000666.1:g.68606414_68606415del | GRCh37 |
NC_000004.10:g.68289009_68289010del | NCBI36 |
NG_009293.1:g.20393_20394del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.773_774del MANE Select | ENSP00000226413.5:p.Ile258ThrfsTer? | |
ENST00000226413.4:c.773_774del | ENSP00000226413.4:p.Ile258ThrfsTer? | |
ENST00000420975.2:c.645_646del | ENSP00000397561.2:p.Thr216GlnfsTer5 | |
NM_000406.2:c.773_774del | NP_000397.1:p.Ile258ThrfsTer? | |
NM_001012763.1:c.645_646del | NP_001012781.1:p.Thr216GlnfsTer5 | |
NM_000406.3:c.773_774del MANE Select | NP_000397.1:p.Ile258ThrfsTer? | |
NM_001012763.2:c.645_646del | NP_001012781.1:p.Thr216GlnfsTer5 |