HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37768115_37768126del , CM000684.2:g.37768115_37768126del | GRCh38 |
NC_000022.10:g.38164122_38164133del , CM000684.1:g.38164122_38164133del | GRCh37 |
NC_000022.9:g.36494068_36494079del | NCBI36 |
NG_012857.1:g.76128_76139del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.6514_6525del MANE Select | ENSP00000496394.1:p.Arg2172_Ser2175del | |
ENST00000344404.10:c.*5997_*6008del | ENSP00000340312.6:n.*5997_*6008del | |
ENST00000403663.6:c.1375_1386del | ENSP00000386026.2:p.Arg459_Ser462del | |
ENST00000406386.7:c.6514_6525del | ENSP00000384312.3:p.Arg2172_Ser2175del | |
NM_001039141.2:c.6514_6525del | NP_001034230.1:p.Arg2172_Ser2175del | |
NM_007032.5:c.1375_1386del | NP_008963.3:p.Arg459_Ser462del | |
NM_001039141.3:c.6514_6525del MANE Select | NP_001034230.1:p.Arg2172_Ser2175del |