HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94974525_94974526del , CM000672.2:g.94974525_94974526del | GRCh38 |
NC_000010.10:g.96734282_96734283del , CM000672.1:g.96734282_96734283del | GRCh37 |
NC_000010.9:g.96724272_96724273del | NCBI36 |
NG_008385.1:g.40868_40869del | |
NG_008385.2:g.41368_41369del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.961+2280_961+2281del MANE Select | ENSP00000260682.6:n.961+2280_961+2281del | |
ENST00000643112.1:c.820-6658_820-6657del | ENSP00000496202.1:n.820-6658_820-6657del | |
ENST00000260682.6:c.961+2280_961+2281del | ENSP00000260682.6:n.961+2280_961+2281del | |
NM_000771.3:c.961+2280_961+2281del | NP_000762.2:n.961+2280_961+2281del | |
NM_000771.4:c.961+2280_961+2281del MANE Select | NP_000762.2:n.961+2280_961+2281del |