HGVS | Genome Assembly |
---|---|
NC_000005.10:g.150848361_150848365del , CM000667.2:g.150848361_150848365del | GRCh38 |
NC_000005.9:g.150227923_150227927del , CM000667.1:g.150227923_150227927del | GRCh37 |
NC_000005.8:g.150208116_150208120del | NCBI36 |
NG_027809.1:g.6839_6843del | |
NG_027809.2:g.6839_6843del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522154.2:c.238_242del MANE Select | ENSP00000428220.1:p.Ser80ProfsTer? | |
ENST00000522154.1:c.238_242del | ENSP00000428220.1:p.Ser80ProfsTer? | |
NM_001145805.1:c.238_242del | NP_001139277.1:p.Ser80ProfsTer? | |
XM_011537641.1:c.238_242del | XP_011535943.1:p.Ser80ProfsTer? | |
NM_001346557.1:c.238_242del | NP_001333486.1:p.Ser80ProfsTer? | |
NM_001346557.2:c.238_242del | NP_001333486.1:p.Ser80ProfsTer? | |
NM_001145805.2:c.238_242del MANE Select | NP_001139277.1:p.Ser80ProfsTer? | |
NR_170598.1:n.1353_1357del |