HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131851445_131851448del , CM000668.2:g.131851445_131851448del | GRCh38 |
NC_000006.11:g.132172585_132172588del , CM000668.1:g.132172585_132172588del | GRCh37 |
NC_000006.10:g.132214278_132214281del | NCBI36 |
NG_008206.1:g.48430_48433del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647893.1:c.556+178_556+181del MANE Select | ENSP00000498074.1:n.556+178_556+181del | |
ENST00000650147.1:c.234+178_234+181del | ||
ENST00000650437.1:c.108+1339_108+1342del | ||
ENST00000360971.6:c.556+178_556+181del | ENSP00000354238.2:n.556+178_556+181del | |
ENST00000513998.5:c.556+178_556+181del | ENSP00000422424.1:n.556+178_556+181del | |
NM_006208.2:c.556+178_556+181del | NP_006199.2:n.556+178_556+181del | |
NM_006208.3:c.556+178_556+181del MANE Select | NP_006199.2:n.556+178_556+181del |