HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154966659_154966662del , CM000685.2:g.154966659_154966662del | GRCh38 |
NC_000023.10:g.154194934_154194937del , CM000685.1:g.154194934_154194937del | GRCh37 |
NC_000023.9:g.153848128_153848131del | NCBI36 |
NG_011403.1:g.61064_61067del | |
NG_011403.2:g.61064_61067del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1037_1040del MANE Select | ENSP00000353393.4:p.Asp346AlafsTer10 | |
ENST00000647125.1:c.*913_*916del | ENSP00000496062.1:n.*913_*916del | |
ENST00000360256.8:c.1037_1040del | ENSP00000353393.4:p.Asp346AlafsTer10 | |
NM_000132.3:c.1037_1040del | NP_000123.1:p.Asp346AlafsTer10 | |
XM_011531126.1:c.932_935del | XP_011529428.1:p.Asp311AlafsTer10 | |
NM_000132.4:c.1037_1040del MANE Select | NP_000123.1:p.Asp346AlafsTer10 |