HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73196524_73196525del , CM000679.2:g.73196524_73196525del | GRCh38 |
NC_000017.10:g.71192663_71192664del , CM000679.1:g.71192663_71192664del | GRCh37 |
NC_000017.9:g.68704258_68704259del | NCBI36 |
NG_008971.1:g.8491_8492del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299886.9:c.333_334del MANE Select | ENSP00000299886.4:p.Lys113ValfsTer? | |
ENST00000299886.8:c.333_334del | ENSP00000299886.4:p.Lys113ValfsTer? | |
ENST00000438720.7:c.331_332del | ||
ENST00000582587.2:c.330_331del | ||
ENST00000618996.4:c.333_334del | ENSP00000479450.1:p.Lys113ValfsTer? | |
NM_018714.2:c.333_334del | NP_061184.1:p.Lys113ValfsTer? | |
NM_018714.3:c.333_334del MANE Select | NP_061184.1:p.Lys113ValfsTer? |