HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213515_1213519del , CM000667.2:g.1213515_1213519del | GRCh38 |
NC_000005.9:g.1213630_1213634del , CM000667.1:g.1213630_1213634del | GRCh37 |
NC_000005.8:g.1266630_1266634del | NCBI36 |
NG_008282.1:g.16921_16925del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.716_720del MANE Select | ENSP00000305302.10:p.Ile239ArgfsTer? | |
ENST00000304460.10:c.716_720del | ENSP00000305302.10:p.Ile239ArgfsTer? | |
ENST00000515652.5:c.624_628del | ENSP00000425701.1:p.His208GlnfsTer3 | |
NM_001003841.2:c.716_720del | NP_001003841.1:p.Ile239ArgfsTer? | |
NM_001003841.3:c.716_720del MANE Select | NP_001003841.1:p.Ile239ArgfsTer? |