HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74752121_74752122del , CM000677.2:g.74752121_74752122del | GRCh38 |
NC_000015.9:g.75044462_75044463del , CM000677.1:g.75044462_75044463del | GRCh37 |
NC_000015.8:g.72831515_72831516del | NCBI36 |
NG_008431.1:g.34580_34581del | |
NG_008431.2:g.34580_34581del | |
NG_061543.1:g.8277_8278del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1043-3_1043-2del MANE Select | ENSP00000342007.4:n.1043-3_1043-2del | |
ENST00000343932.4:c.1043-3_1043-2del | ENSP00000342007.4:n.1043-3_1043-2del | |
NM_000761.4:c.1043-3_1043-2del | NP_000752.2:n.1043-3_1043-2del | |
NM_000761.5:c.1043-3_1043-2del MANE Select | NP_000752.2:n.1043-3_1043-2del |