HGVS | Genome Assembly |
---|---|
NC_000006.12:g.83516691_83516798del , CM000668.2:g.83516691_83516798del | GRCh38 |
NC_000006.11:g.84226410_84226517del , CM000668.1:g.84226410_84226517del | GRCh37 |
NC_000006.10:g.84283129_84283236del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369700.4:c.-21+3997_-21+4104del MANE Select | ENSP00000358714.3:n.-21+3997_-21+4104del | |
ENST00000369700.3:c.-21+3997_-21+4104del | ENSP00000358714.3:n.-21+3997_-21+4104del | |
NM_001170423.1:c.-126+3997_-126+4104del | NP_001163894.1:n.-126+3997_-126+4104del | |
NM_153362.2:c.-21+3997_-21+4104del | NP_699193.2:n.-21+3997_-21+4104del | |
NM_153362.3:c.-21+3997_-21+4104del MANE Select | NP_699193.2:n.-21+3997_-21+4104del | |
NM_001170423.2:c.-126+3997_-126+4104del | NP_001163894.1:n.-126+3997_-126+4104del |