HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173440_173441del , CM000678.2:g.173440_173441del | GRCh38 |
NC_000016.9:g.223439_223440del , CM000678.1:g.223439_223440del | GRCh37 |
NC_000016.8:g.163439_163440del | NCBI36 |
NG_000006.1:g.34303_34304del | |
NG_059186.1:g.1790_1791del | |
NG_059271.1:g.5594_5595del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.301-32_301-31del MANE Select | ENSP00000251595.6:n.301-32_301-31del | |
ENST00000251595.10:c.301-32_301-31del | ENSP00000251595.6:n.301-32_301-31del | |
ENST00000397806.1:c.205-32_205-31del | ENSP00000380908.1:n.205-32_205-31del | |
ENST00000482565.1:n.437-32_437-31del | ||
ENST00000484216.1:n.380_381del | ||
NM_000517.4:c.301-32_301-31del | NP_000508.1:n.301-32_301-31del | |
NM_000517.6:c.301-32_301-31del MANE Select | NP_000508.1:n.301-32_301-31del |