HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94780371_94780372del , CM000672.2:g.94780371_94780372del | GRCh38 |
NC_000010.10:g.96540128_96540129del , CM000672.1:g.96540128_96540129del | GRCh37 |
NC_000010.9:g.96530118_96530119del | NCBI36 |
NG_008384.2:g.22666_22667del | |
NG_008384.3:g.22691_22692del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.482-128_482-127del MANE Select | ENSP00000360372.3:n.482-128_482-127del | |
ENST00000645461.1:n.1535-128_1535-127del | ||
ENST00000371321.7:c.482-128_482-127del | ENSP00000360372.3:n.482-128_482-127del | |
ENST00000464755.1:c.1245-128_1245-127del | ENSP00000483243.1:n.1245-128_1245-127del | |
NM_000769.2:c.482-128_482-127del | NP_000760.1:n.482-128_482-127del | |
NM_000769.4:c.482-128_482-127del MANE Select | NP_000760.1:n.482-128_482-127del |