HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648848_152648849del , CM000669.2:g.152648848_152648849del | GRCh38 |
NC_000007.13:g.152345933_152345934del , CM000669.1:g.152345933_152345934del | GRCh37 |
NC_000007.12:g.151976866_151976867del | NCBI36 |
NG_027988.1:g.32320_32321del | |
NG_027988.2:g.32320_32321del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.471_472del | ENSP00000513758.1:p.Arg158ThrfsTer4 | |
ENST00000359321.2:c.639_640del MANE Select | ENSP00000352271.1:p.Arg214ThrfsTer4 | |
ENST00000359321.1:c.639_640del | ENSP00000352271.1:p.Arg214ThrfsTer4 | |
ENST00000495707.1:n.661_662del | ||
NM_005431.1:c.639_640del | NP_005422.1:p.Arg214ThrfsTer4 | |
NM_005431.2:c.639_640del MANE Select | NP_005422.1:p.Arg214ThrfsTer4 |