HGVS | Genome Assembly |
---|---|
NC_000006.12:g.83516834_83516836del , CM000668.2:g.83516834_83516836del | GRCh38 |
NC_000006.11:g.84226553_84226555del , CM000668.1:g.84226553_84226555del | GRCh37 |
NC_000006.10:g.84283272_84283274del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369700.4:c.-21+4140_-21+4142del MANE Select | ENSP00000358714.3:n.-21+4140_-21+4142del | |
ENST00000369700.3:c.-21+4140_-21+4142del | ENSP00000358714.3:n.-21+4140_-21+4142del | |
NM_001170423.1:c.-126+4140_-126+4142del | NP_001163894.1:n.-126+4140_-126+4142del | |
NM_153362.2:c.-21+4140_-21+4142del | NP_699193.2:n.-21+4140_-21+4142del | |
NM_153362.3:c.-21+4140_-21+4142del MANE Select | NP_699193.2:n.-21+4140_-21+4142del | |
NM_001170423.2:c.-126+4140_-126+4142del | NP_001163894.1:n.-126+4140_-126+4142del |