HGVS | Genome Assembly |
---|---|
NC_000023.11:g.116173323del , CM000685.2:g.116173323del | GRCh38 |
NC_000023.10:g.115304576del , CM000685.1:g.115304576del | GRCh37 |
NC_000023.9:g.115218604del | NCBI36 |
NG_016326.1:g.7619del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371906.5:c.1043del MANE Select | ENSP00000360973.4:p.Ser348PhefsTer? | |
ENST00000680409.1:n.1511del | ||
ENST00000681852.1:c.1043del | ENSP00000505750.1:p.Ser348PhefsTer? | |
ENST00000371906.4:c.1043del | ENSP00000360973.4:p.Ser348PhefsTer? | |
NM_000686.4:c.1043del | NP_000677.2:p.Ser348PhefsTer? | |
XM_011537533.1:c.1043del | XP_011535835.1:p.Ser348PhefsTer? | |
NM_000686.5:c.1043del MANE Select | NP_000677.2:p.Ser348PhefsTer? | |
NM_001385624.1:c.1043del | NP_001372553.1:p.Ser348PhefsTer? |