HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133644278del , CM000671.2:g.133644278del | GRCh38 |
NC_000009.11:g.136509400del , CM000671.1:g.136509400del | GRCh37 |
NC_000009.10:g.135499221del | NCBI36 |
NG_008645.1:g.12916del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393056.8:c.982del MANE Select | ENSP00000376776.2:p.Leu328SerfsTer12 | |
ENST00000393056.6:c.982del | ENSP00000376776.2:p.Leu328SerfsTer12 | |
NM_000787.3:c.982del | NP_000778.3:p.Leu328SerfsTer12 | |
NM_000787.4:c.982del MANE Select | NP_000778.3:p.Leu328SerfsTer12 |