HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215675652_215675653del , CM000663.2:g.215675652_215675653del | GRCh38 |
NC_000001.10:g.215848994_215848995del , CM000663.1:g.215848994_215848995del | GRCh37 |
NC_000001.9:g.213915617_213915618del | NCBI36 |
NG_009497.1:g.752744_752745del | |
NG_009497.2:g.752796_752797del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.12295-37_12295-36del MANE Select | ENSP00000305941.3:n.12295-37_12295-36del | |
ENST00000674083.1:c.12295-37_12295-36del | ENSP00000501296.1:n.12295-37_12295-36del | |
ENST00000307340.7:c.12295-37_12295-36del | ENSP00000305941.3:n.12295-37_12295-36del | |
NM_206933.2:c.12295-37_12295-36del | NP_996816.2:n.12295-37_12295-36del | |
NM_206933.3:c.12295-37_12295-36del | NP_996816.2:n.12295-37_12295-36del | |
NM_206933.4:c.12295-37_12295-36del MANE Select | NP_996816.3:n.12295-37_12295-36del |