HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400345del , CM000670.2:g.18400345del | GRCh38 |
NC_000008.10:g.18257855del , CM000670.1:g.18257855del | GRCh37 |
NC_000008.9:g.18302135del | NCBI36 |
NG_012246.1:g.14101del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286479.4:c.342del MANE Select | ENSP00000286479.3:p.Ile114MetfsTer22 | |
ENST00000286479.3:c.342del | ENSP00000286479.3:p.Ile114MetfsTer22 | |
ENST00000520116.1:c.-49del | ENSP00000428416.1:n.-49del | |
NM_000015.2:c.342del | NP_000006.2:p.Ile114MetfsTer22 | |
XM_011544358.1:c.342del | XP_011542660.1:p.Ile114MetfsTer22 | |
XM_017012938.1:c.342del | XP_016868427.1:p.Ile114MetfsTer22 | |
NM_000015.3:c.342del MANE Select | NP_000006.2:p.Ile114MetfsTer22 |