HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322727_73322731del , CM000677.2:g.73322727_73322731del | GRCh38 |
NC_000015.9:g.73615068_73615072del , CM000677.1:g.73615068_73615072del | GRCh37 |
NC_000015.8:g.71402121_71402125del | NCBI36 |
NG_009063.1:g.51537_51541del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3365_3369del MANE Select | ENSP00000261917.3:p.Ala1122GlyfsTer? | |
ENST00000261917.3:c.3365_3369del | ENSP00000261917.3:p.Ala1122GlyfsTer? | |
NM_005477.2:c.3365_3369del | NP_005468.1:p.Ala1122GlyfsTer? | |
XM_011521148.1:c.2147_2151del | XP_011519450.1:p.Ala716GlyfsTer? | |
XM_011521148.2:c.2147_2151del | XP_011519450.1:p.Ala716GlyfsTer? | |
NM_005477.3:c.3365_3369del MANE Select | NP_005468.1:p.Ala1122GlyfsTer? |