HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29073102_29073103del , CM000664.2:g.29073102_29073103del | GRCh38 |
NC_000002.11:g.29295968_29295969del , CM000664.1:g.29295968_29295969del | GRCh37 |
NC_000002.10:g.29149472_29149473del | NCBI36 |
NG_021427.1:g.6163_6164del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.1163_1164del MANE Select | ENSP00000332809.4:p.Thr388ArgfsTer? | |
ENST00000331664.5:c.1163_1164del | ENSP00000332809.4:p.Thr388ArgfsTer? | |
NM_001029883.2:c.1163_1164del | NP_001025054.1:p.Thr388ArgfsTer? | |
XM_011532826.1:c.1163_1164del | XP_011531128.1:p.Thr388ArgfsTer? | |
XR_939901.1:n.185+3935_185+3936del | ||
XR_939902.1:n.173+3947_173+3948del | ||
NM_001029883.3:c.1163_1164del MANE Select | NP_001025054.1:p.Thr388ArgfsTer? |