HGVS | Genome Assembly |
---|---|
NC_000004.12:g.88007933_88007946del , CM000666.2:g.88007933_88007946del | GRCh38 |
NC_000004.11:g.88929085_88929098del , CM000666.1:g.88929085_88929098del | GRCh37 |
NC_000004.10:g.89148109_89148122del | NCBI36 |
NG_008604.1:g.5266_5279del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237596.7:c.200_213del MANE Select | ENSP00000237596.2:p.Pro67ArgfsTer20 | |
ENST00000237596.6:c.200_213del | ENSP00000237596.2:p.Pro67ArgfsTer20 | |
NM_000297.3:c.200_213del | NP_000288.1:p.Pro67ArgfsTer20 | |
XM_011532028.1:c.200_213del | XP_011530330.1:p.Pro67ArgfsTer20 | |
XR_244632.2:n.295_308del | ||
NR_156488.1:n.287_300del | ||
XM_011532028.2:c.200_213del | XP_011530330.1:p.Pro67ArgfsTer20 | |
NM_000297.4:c.200_213del MANE Select | NP_000288.1:p.Pro67ArgfsTer20 | |
NR_156488.2:n.299_312del |