HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117064_19117087del , CM000669.2:g.19117064_19117087del | GRCh38 |
NC_000007.13:g.19156687_19156710del , CM000669.1:g.19156687_19156710del | GRCh37 |
NC_000007.12:g.19123212_19123235del | NCBI36 |
NG_008114.1:g.5592_5615del | |
NG_008114.2:g.5592_5615del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.241_264del MANE Select | ENSP00000242261.5:p.Cys81_Gly88del | |
ENST00000242261.5:c.241_264del | ENSP00000242261.5:p.Cys81_Gly88del | |
ENST00000354571.5:c.38_61del | ||
NM_000474.3:c.241_264del | NP_000465.1:p.Cys81_Gly88del | |
XM_011515496.1:c.241_264del | XP_011513798.1:p.Cys81_Gly88del | |
NR_149001.1:n.592_615del | ||
NM_000474.4:c.241_264del MANE Select | NP_000465.1:p.Cys81_Gly88del | |
NR_149001.2:n.556_579del |