HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352540del , CM000671.2:g.133352540del | GRCh38 |
NC_000009.10:g.135209216del | NCBI36 |
NG_008477.1:g.8967del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.657del MANE Select | ENSP00000361042.3:p.Asn220ThrfsTer? | |
ENST00000371974.7:c.657del | ENSP00000361042.3:p.Asn220ThrfsTer? | |
ENST00000437995.1:n.567del | ||
ENST00000495952.5:n.647del | ||
ENST00000615505.4:c.330del | ENSP00000482067.1:p.Asn111ThrfsTer? | |
NM_001280787.1:c.330del | NP_001267716.1:p.Asn111ThrfsTer? | |
NM_003172.3:c.657del | NP_003163.1:p.Asn220ThrfsTer? | |
XM_011518942.1:c.330del | XP_011517244.1:p.Asn111ThrfsTer? | |
NM_003172.4:c.657del MANE Select | NP_003163.1:p.Asn220ThrfsTer? |