HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17053950_17054021del , CM000663.2:g.17053950_17054021del | GRCh38 |
NC_000001.10:g.17380445_17380516del , CM000663.1:g.17380445_17380516del | GRCh37 |
NC_000001.9:g.17253032_17253103del | NCBI36 |
NG_012340.1:g.5152_5223del , LRG_316:g.5152_5223del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375499.8:c.1_72del MANE Select | ENSP00000364649.3:p.Met1_Gln24del | |
ENST00000375499.7:c.1_72del | ENSP00000364649.3:p.Met1_Gln24del | |
ENST00000466613.2:n.13_84del | ||
NM_003000.2:c.1_72del , LRG_316t1:c.1_72del | NP_002991.2:p.Met1_Gln24del | |
NM_003000.3:c.1_72del MANE Select | NP_002991.2:p.Met1_Gln24del |