HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29073075_29073076insGACTT , CM000664.2:g.29073075_29073076insGACTT | GRCh38 |
NC_000002.11:g.29295941_29295942insGACTT , CM000664.1:g.29295941_29295942insGACTT | GRCh37 |
NC_000002.10:g.29149445_29149446insGACTT | NCBI36 |
NG_021427.1:g.6186_6187insAAGTC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.1186_1187insAAGTC MANE Select | ENSP00000332809.4:p.Thr396LysfsTer? | |
ENST00000331664.5:c.1186_1187insAAGTC | ENSP00000332809.4:p.Thr396LysfsTer? | |
NM_001029883.2:c.1186_1187insAAGTC | NP_001025054.1:p.Thr396LysfsTer? | |
XM_011532826.1:c.1186_1187insAAGTC | XP_011531128.1:p.Thr396LysfsTer? | |
XR_939901.1:n.185+3908_185+3909insGACTT | ||
XR_939902.1:n.173+3920_173+3921insGACTT | ||
NM_001029883.3:c.1186_1187insAAGTC MANE Select | NP_001025054.1:p.Thr396LysfsTer? |