HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29071054_29071078del , CM000664.2:g.29071054_29071078del | GRCh38 |
NC_000002.11:g.29293920_29293944del , CM000664.1:g.29293920_29293944del | GRCh37 |
NC_000002.10:g.29147424_29147448del | NCBI36 |
NG_021427.1:g.8184_8208del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331664.6:c.3184_3208del MANE Select | ENSP00000332809.4:p.Glu1062SerfsTer? | |
ENST00000331664.5:c.3184_3208del | ENSP00000332809.4:p.Glu1062SerfsTer? | |
NM_001029883.2:c.3184_3208del | NP_001025054.1:p.Glu1062SerfsTer? | |
XM_011532826.1:c.3184_3208del | XP_011531128.1:p.Glu1062SerfsTer? | |
XR_939901.1:n.185+1887_185+1911del | ||
XR_939902.1:n.173+1899_173+1923del | ||
NM_001029883.3:c.3184_3208del MANE Select | NP_001025054.1:p.Glu1062SerfsTer? |