HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154966561_154966572del , CM000685.2:g.154966561_154966572del | GRCh38 |
NC_000023.10:g.154194836_154194847del , CM000685.1:g.154194836_154194847del | GRCh37 |
NC_000023.9:g.153848030_153848041del | NCBI36 |
NG_011403.1:g.61154_61165del | |
NG_011403.2:g.61154_61165del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1127_1138del MANE Select | ENSP00000353393.4:p.Val376_Phe379del | |
ENST00000647125.1:c.*1003_*1014del | ENSP00000496062.1:n.*1003_*1014del | |
ENST00000360256.8:c.1127_1138del | ENSP00000353393.4:p.Val376_Phe379del | |
NM_000132.3:c.1127_1138del | NP_000123.1:p.Val376_Phe379del | |
XM_011531126.1:c.1022_1033del | XP_011529428.1:p.Val341_Phe344del | |
NM_000132.4:c.1127_1138del MANE Select | NP_000123.1:p.Val376_Phe379del |