HGVS | Genome Assembly |
---|---|
NC_000018.10:g.13884928_13884931del , CM000680.2:g.13884928_13884931del | GRCh38 |
NC_000018.9:g.13884927_13884930del , CM000680.1:g.13884927_13884930del | GRCh37 |
NC_000018.8:g.13874927_13874930del | NCBI36 |
NG_011819.1:g.35606_35609del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000327606.4:c.588_591del MANE Select | ENSP00000333821.2:p.Met196IlefsTer19 | |
ENST00000327606.3:c.588_591del | ENSP00000333821.2:p.Met196IlefsTer19 | |
NM_000529.2:c.588_591del MANE Select | NP_000520.1:p.Met196IlefsTer19 | |
NM_001291911.1:c.588_591del | NP_001278840.1:p.Met196IlefsTer19 | |
XM_017025781.1:c.588_591del | XP_016881270.1:p.Met196IlefsTer19 |