HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173034del , CM000678.2:g.173034del | GRCh38 |
NC_000016.9:g.223033del , CM000678.1:g.223033del | GRCh37 |
NC_000016.8:g.163033del | NCBI36 |
NG_000006.1:g.33897del | |
NG_059186.1:g.1384del | |
NG_059271.1:g.5188del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.95+27del MANE Select | ENSP00000251595.6:n.95+27del | |
ENST00000251595.10:c.95+27del | ENSP00000251595.6:n.95+27del | |
ENST00000397806.1:c.-2+76del | ENSP00000380908.1:n.-2+76del | |
ENST00000482565.1:n.141del | ||
ENST00000484216.1:n.64+27del | ||
NM_000517.4:c.95+27del | NP_000508.1:n.95+27del | |
NM_000517.6:c.95+27del MANE Select | NP_000508.1:n.95+27del |