HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94947264_94947265del , CM000672.2:g.94947264_94947265del | GRCh38 |
NC_000010.10:g.96707021_96707022del , CM000672.1:g.96707021_96707022del | GRCh37 |
NC_000010.9:g.96697011_96697012del | NCBI36 |
NG_008385.1:g.13607_13608del | |
NG_008385.2:g.14107_14108del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.482-515_482-514del MANE Select | ENSP00000260682.6:n.482-515_482-514del | |
ENST00000643112.1:c.482-515_482-514del | ENSP00000496202.1:n.482-515_482-514del | |
ENST00000645207.1:n.635-515_635-514del | ||
ENST00000260682.6:c.482-515_482-514del | ENSP00000260682.6:n.482-515_482-514del | |
ENST00000473496.1:n.253-515_253-514del | ||
NM_000771.3:c.482-515_482-514del | NP_000762.2:n.482-515_482-514del | |
NM_000771.4:c.482-515_482-514del MANE Select | NP_000762.2:n.482-515_482-514del |