HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152660596_152660600del , CM000669.2:g.152660596_152660600del | GRCh38 |
NC_000007.13:g.152357681_152357685del , CM000669.1:g.152357681_152357685del | GRCh37 |
NC_000007.12:g.151988614_151988618del | NCBI36 |
NG_027988.1:g.20567_20571del | |
NG_027988.2:g.20567_20571del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.-47-11236_-47-11232del | ENSP00000513758.1:n.-47-11236_-47-11232del | |
ENST00000698507.1:n.291_295del | ||
ENST00000359321.2:c.121+102_121+106del MANE Select | ENSP00000352271.1:n.121+102_121+106del | |
ENST00000359321.1:c.121+102_121+106del | ENSP00000352271.1:n.121+102_121+106del | |
ENST00000495707.1:n.143+102_143+106del | ||
NM_005431.1:c.121+102_121+106del | NP_005422.1:n.121+102_121+106del | |
NM_005431.2:c.121+102_121+106del MANE Select | NP_005422.1:n.121+102_121+106del |