HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73196340_73196341del , CM000679.2:g.73196340_73196341del | GRCh38 |
NC_000017.10:g.71192479_71192480del , CM000679.1:g.71192479_71192480del | GRCh37 |
NC_000017.9:g.68704074_68704075del | NCBI36 |
NG_008971.1:g.8307_8308del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299886.9:c.316-167_316-166del MANE Select | ENSP00000299886.4:n.316-167_316-166del | |
ENST00000299886.8:c.316-167_316-166del | ENSP00000299886.4:n.316-167_316-166del | |
ENST00000438720.7:c.314-167_314-166del | ||
ENST00000582587.2:c.293-147_293-146del | ||
ENST00000618996.4:c.316-167_316-166del | ENSP00000479450.1:n.316-167_316-166del | |
NM_018714.2:c.316-167_316-166del | NP_061184.1:n.316-167_316-166del | |
NM_018714.3:c.316-167_316-166del MANE Select | NP_061184.1:n.316-167_316-166del |