HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648413_152648420del , CM000669.2:g.152648413_152648420del | GRCh38 |
NC_000007.13:g.152345498_152345505del , CM000669.1:g.152345498_152345505del | GRCh37 |
NC_000007.12:g.151976431_151976438del | NCBI36 |
NG_027988.1:g.32751_32758del | |
NG_027988.2:g.32751_32758del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.*227_*234del | ENSP00000513758.1:n.*227_*234del | |
ENST00000359321.2:c.*227_*234del MANE Select | ENSP00000352271.1:n.*227_*234del | |
ENST00000359321.1:c.*227_*234del | ENSP00000352271.1:n.*227_*234del | |
ENST00000495707.1:n.1092_1099del | ||
NM_005431.1:c.*227_*234del | NP_005422.1:n.*227_*234del | |
NM_005431.2:c.*227_*234del MANE Select | NP_005422.1:n.*227_*234del |