HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61590517dup , CM000679.2:g.61590517dup | GRCh38 |
NC_000017.10:g.59667878dup , CM000679.1:g.59667878dup | GRCh37 |
NC_000017.9:g.57022660dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521764.3:c.*22dup MANE Select | ENSP00000427802.1:n.*22dup | |
ENST00000521764.2:c.*22dup | ENSP00000427802.1:n.*22dup | |
NM_199290.3:c.*22dup | NP_954984.1:n.*22dup | |
NM_199290.4:c.*22dup MANE Select | NP_954984.1:n.*22dup |