HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96145034dup , CM000670.2:g.96145034dup | GRCh38 |
NC_000008.10:g.97157262dup , CM000670.1:g.97157262dup | GRCh37 |
NC_000008.9:g.97226438dup | NCBI36 |
NG_008981.1:g.20760dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.898dup MANE Select | ENSP00000287020.4:p.Ala300GlyfsTer? | |
ENST00000287020.6:c.898dup | ENSP00000287020.4:p.Ala300GlyfsTer? | |
ENST00000620978.1:c.793+43dup | ENSP00000480170.1:n.793+43dup | |
ENST00000621429.1:c.874+24dup | ENSP00000483711.1:n.874+24dup | |
NM_001001557.2:c.898dup | NP_001001557.1:p.Ala300GlyfsTer? | |
XM_011517030.1:c.499dup | XP_011515332.1:p.Ala167GlyfsTer? | |
NM_001001557.3:c.898dup | NP_001001557.1:p.Ala300GlyfsTer? | |
NM_001001557.4:c.898dup MANE Select | NP_001001557.1:p.Ala300GlyfsTer? |