HGVS | Genome Assembly |
---|---|
NC_000006.12:g.121447068_121447069del , CM000668.2:g.121447068_121447069del | GRCh38 |
NC_000006.11:g.121768214_121768215del , CM000668.1:g.121768214_121768215del | GRCh37 |
NC_000006.10:g.121809913_121809914del | NCBI36 |
NG_008308.1:g.16470_16471del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282561.4:c.221_222del MANE Select | ENSP00000282561.3:p.His74ArgfsTer? | |
ENST00000647564.1:c.221_222del | ENSP00000497565.1:p.His74ArgfsTer? | |
ENST00000649003.1:c.221_222del | ENSP00000497283.1:p.His74ArgfsTer? | |
ENST00000650427.1:c.221_222del | ENSP00000497367.1:p.His74ArgfsTer? | |
ENST00000282561.3:c.221_222del | ENSP00000282561.3:p.His74ArgfsTer? | |
NM_000165.4:c.221_222del | NP_000156.1:p.His74ArgfsTer? | |
NM_000165.5:c.221_222del MANE Select | NP_000156.1:p.His74ArgfsTer? |