HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813658_129813659del , CM000671.2:g.129813658_129813659del | GRCh38 |
NC_000009.11:g.132575937_132575938del , CM000671.1:g.132575937_132575938del | GRCh37 |
NC_000009.10:g.131615758_131615759del | NCBI36 |
NG_008049.1:g.15504_15505del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.*313_*314del MANE Select | ENSP00000345719.4:n.*313_*314del | |
ENST00000651202.1:c.*580_*581del | ENSP00000498222.1:n.*580_*581del | |
ENST00000351698.4:c.*313_*314del | ENSP00000345719.4:n.*313_*314del | |
ENST00000474192.1:n.896_897del | ||
NM_000113.2:c.*313_*314del | NP_000104.1:n.*313_*314del | |
XR_929731.3:n.1507_1508del | ||
NM_000113.3:c.*313_*314del MANE Select | NP_000104.1:n.*313_*314del |