HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32220539_32220540del , CM000668.2:g.32220539_32220540del | GRCh38 |
NC_000006.11:g.32188316_32188317del , CM000668.1:g.32188316_32188317del | GRCh37 |
NC_000006.10:g.32296294_32296295del | NCBI36 |
NG_028190.1:g.8535_8536del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.1031_1032del MANE Select | ENSP00000364163.3:p.Val344GlufsTer9 | |
ENST00000473562.1:n.1160_1161del | ||
NM_004557.3:c.1031_1032del | NP_004548.3:p.Val344GlufsTer9 | |
NR_134949.1:n.1170_1171del | ||
NR_134950.1:n.1170_1171del | ||
NM_004557.4:c.1031_1032del MANE Select | NP_004548.3:p.Val344GlufsTer9 | |
NR_134949.2:n.1170_1171del | ||
NR_134950.2:n.1170_1171del |