HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523513del , CM000664.2:g.232523513del | GRCh38 |
NC_000002.11:g.233388223del , CM000664.1:g.233388223del | GRCh37 |
NC_000002.10:g.233096467del | NCBI36 |
NG_008028.1:g.2302del | |
NG_031969.1:g.8051del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.947del MANE Select | ENSP00000479745.1:p.Pro316GlnfsTer21 | |
ENST00000449534.6:c.947del | ENSP00000473410.1:p.Pro316GlnfsTer21 | |
ENST00000617714.1:c.947del | ENSP00000479745.1:p.Pro316GlnfsTer21 | |
NM_001195129.1:c.947del | NP_001182058.1:p.Pro316GlnfsTer21 | |
NM_001195129.2:c.947del MANE Select | NP_001182058.1:p.Pro316GlnfsTer21 | |
NM_001369848.1:c.947del | NP_001356777.1:p.Pro316GlnfsTer21 |