HGVS | Genome Assembly |
---|---|
NC_000007.14:g.73441840_73441841dup , CM000669.2:g.73441840_73441841dup | GRCh38 |
NC_000007.13:g.72856170_72856171dup , CM000669.1:g.72856170_72856171dup | GRCh37 |
NC_000007.12:g.72494106_72494107dup | NCBI36 |
NG_027679.1:g.85447_85448dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000339594.9:c.*16-146_*16-145dup MANE Select | ENSP00000342434.4:n.*16-146_*16-145dup | |
ENST00000339594.8:c.*16-146_*16-145dup | ENSP00000342434.4:n.*16-146_*16-145dup | |
ENST00000404251.1:c.*357_*358dup | ENSP00000385442.1:n.*357_*358dup | |
NM_032408.3:c.*16-146_*16-145dup | NP_115784.1:n.*16-146_*16-145dup | |
XM_017012773.2:c.*357_*358dup | XP_016868262.1:n.*357_*358dup | |
NM_032408.4:c.*16-146_*16-145dup MANE Select | NP_115784.1:n.*16-146_*16-145dup | |
NM_001370402.1:c.*357_*358dup | NP_001357331.1:n.*357_*358dup |