HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173259dup , CM000678.2:g.173259dup | GRCh38 |
NC_000016.9:g.223258dup , CM000678.1:g.223258dup | GRCh37 |
NC_000016.8:g.163258dup | NCBI36 |
NG_000006.1:g.34122dup | |
NG_059186.1:g.1609dup | |
NG_059271.1:g.5413dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.230dup MANE Select | ENSP00000251595.6:p.Met77IlefsTer? | |
ENST00000251595.10:c.230dup | ENSP00000251595.6:p.Met77IlefsTer? | |
ENST00000397806.1:c.134dup | ENSP00000380908.1:p.Met45IlefsTer? | |
ENST00000482565.1:n.366dup | ||
ENST00000484216.1:n.199dup | ||
NM_000517.4:c.230dup | NP_000508.1:p.Met77IlefsTer? | |
NM_000517.6:c.230dup MANE Select | NP_000508.1:p.Met77IlefsTer? |