HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940023_67940024del , CM000678.2:g.67940023_67940024del | GRCh38 |
NC_000016.9:g.67973926_67973927del , CM000678.1:g.67973926_67973927del | GRCh37 |
NC_000016.8:g.66531427_66531428del | NCBI36 |
NG_009778.1:g.9091_9092del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.1205_1206del MANE Select | ENSP00000264005.5:p.Leu402GlnfsTer? | |
ENST00000264005.9:c.1205_1206del | ENSP00000264005.5:p.Leu402GlnfsTer? | |
ENST00000570369.5:c.208_209del | ||
ENST00000573538.5:c.943_944del | ENSP00000463220.1:n.943_944del | |
NM_000229.1:c.1205_1206del | NP_000220.1:p.Leu402GlnfsTer? | |
NM_000229.2:c.1205_1206del MANE Select | NP_000220.1:p.Leu402GlnfsTer? |