HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767600_28767608dup , CM000676.2:g.28767600_28767608dup | GRCh38 |
NC_000014.8:g.29236806_29236814dup , CM000676.1:g.29236806_29236814dup | GRCh37 |
NC_000014.7:g.28306557_28306565dup | NCBI36 |
NG_009367.1:g.5520_5528dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.321_329dup | ENSP00000516406.1:p.Pro110_Pro111insProProPro | |
ENST00000313071.7:c.321_329dup MANE Select | ENSP00000339004.3:p.Pro110_Pro111insProProPro | |
ENST00000313071.6:c.321_329dup | ENSP00000339004.3:p.Pro110_Pro111insProProPro | |
NM_005249.4:c.321_329dup | NP_005240.3:p.Pro110_Pro111insProProPro | |
NM_005249.5:c.321_329dup MANE Select | NP_005240.3:p.Pro110_Pro111insProProPro |