HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648427_152648428del , CM000669.2:g.152648427_152648428del | GRCh38 |
NC_000007.13:g.152345512_152345513del , CM000669.1:g.152345512_152345513del | GRCh37 |
NC_000007.12:g.151976445_151976446del | NCBI36 |
NG_027988.1:g.32751_32752del | |
NG_027988.2:g.32751_32752del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.*227_*228del | ENSP00000513758.1:n.*227_*228del | |
ENST00000359321.2:c.*227_*228del MANE Select | ENSP00000352271.1:n.*227_*228del | |
ENST00000359321.1:c.*227_*228del | ENSP00000352271.1:n.*227_*228del | |
ENST00000495707.1:n.1092_1093del | ||
NM_005431.1:c.*227_*228del | NP_005422.1:n.*227_*228del | |
NM_005431.2:c.*227_*228del MANE Select | NP_005422.1:n.*227_*228del |