HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81357819dup , CM000678.2:g.81357819dup | GRCh38 |
NC_000016.9:g.81391424dup , CM000678.1:g.81391424dup | GRCh37 |
NC_000016.8:g.79948925dup | NCBI36 |
NG_009007.1:g.47854dup , LRG_242:g.47854dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648349.2:c.*569dup | ENSP00000498114.1:n.*569dup | |
ENST00000648994.2:c.861dup MANE Select | ENSP00000497351.1:p.Pro288ThrfsTer13 | |
ENST00000650388.1:c.395dup | ENSP00000498081.1:n.395dup | |
ENST00000568107.2:c.861dup | ENSP00000476795.1:p.Pro288ThrfsTer13 | |
NM_022041.3:c.861dup , LRG_242t1:c.861dup | NP_071324.1:p.Pro288ThrfsTer13 | |
XM_017023734.1:c.222dup | XP_016879223.1:p.Pro75ThrfsTer13 | |
NM_001377486.1:c.222dup | NP_001364415.1:p.Pro75ThrfsTer13 | |
NM_022041.4:c.861dup MANE Select | NP_071324.1:p.Pro288ThrfsTer13 |