HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648426_152648428dup , CM000669.2:g.152648426_152648428dup | GRCh38 |
NC_000007.13:g.152345511_152345513dup , CM000669.1:g.152345511_152345513dup | GRCh37 |
NC_000007.12:g.151976444_151976446dup | NCBI36 |
NG_027988.1:g.32750_32752dup | |
NG_027988.2:g.32750_32752dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.*226_*228dup | ENSP00000513758.1:n.*226_*228dup | |
ENST00000359321.2:c.*226_*228dup MANE Select | ENSP00000352271.1:n.*226_*228dup | |
ENST00000359321.1:c.*226_*228dup | ENSP00000352271.1:n.*226_*228dup | |
ENST00000495707.1:n.1091_1093dup | ||
NM_005431.1:c.*226_*228dup | NP_005422.1:n.*226_*228dup | |
NM_005431.2:c.*226_*228dup MANE Select | NP_005422.1:n.*226_*228dup |