HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33443600_33443601del , CM000682.2:g.33443600_33443601del | GRCh38 |
NC_000020.10:g.32031406_32031407del , CM000682.1:g.32031406_32031407del | GRCh37 |
NC_000020.9:g.31495067_31495068del | NCBI36 |
NG_011622.1:g.5294_5295del , LRG_332:g.5294_5295del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217381.3:c.22_23del MANE Select | ENSP00000217381.2:p.Pro8AlafsTer? | |
ENST00000217381.2:c.22_23del | ENSP00000217381.2:p.Pro8AlafsTer? | |
NM_003098.2:c.22_23del , LRG_332t1:c.22_23del | NP_003089.1:p.Pro8AlafsTer? | |
XM_005260517.1:c.22_23del | XP_005260574.1:p.Pro8AlafsTer? | |
XM_011529007.1:c.22_23del | XP_011527309.1:p.Pro8AlafsTer? | |
XM_011529008.1:c.22_23del | XP_011527310.1:p.Pro8AlafsTer? | |
XR_936612.1:n.255_256del | ||
NM_003098.3:c.22_23del MANE Select | NP_003089.1:p.Pro8AlafsTer? |