HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29070722_29070727dup , CM000664.2:g.29070722_29070727dup | GRCh38 |
NC_000002.11:g.29293588_29293593dup , CM000664.1:g.29293588_29293593dup | GRCh37 |
NC_000002.10:g.29147092_29147097dup | NCBI36 |
NG_021427.1:g.8535_8540dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.3535_3540dup MANE Select | ENSP00000332809.4:p.Ala1180_Leu1181insAlaAla | |
ENST00000331664.5:c.3535_3540dup | ENSP00000332809.4:p.Ala1180_Leu1181insAlaAla | |
NM_001029883.2:c.3535_3540dup | NP_001025054.1:p.Ala1180_Leu1181insAlaAla | |
XM_011532826.1:c.3535_3540dup | XP_011531128.1:p.Ala1180_Leu1181insAlaAla | |
XR_939901.1:n.185+1555_185+1560dup | ||
XR_939902.1:n.173+1567_173+1572dup | ||
NM_001029883.3:c.3535_3540dup MANE Select | NP_001025054.1:p.Ala1180_Leu1181insAlaAla |