HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96429296_96429298del , CM000667.2:g.96429296_96429298del | GRCh38 |
NC_000005.9:g.95765000_95765002del , CM000667.1:g.95765000_95765002del | GRCh37 |
NC_000005.8:g.95790756_95790758del | NCBI36 |
NG_021161.1:g.8987_8989del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.203_205del MANE Select | ENSP00000308024.2:p.Tyr68del | |
ENST00000311106.7:c.203_205del | ENSP00000308024.2:p.Tyr68del | |
ENST00000508626.5:c.62_64del | ENSP00000421600.1:p.Tyr21del | |
ENST00000509190.1:c.203_205del | ENSP00000427294.1:p.Tyr68del | |
NM_000439.4:c.203_205del | NP_000430.3:p.Tyr68del | |
NM_001177875.1:c.62_64del | NP_001171346.1:p.Tyr21del | |
NR_130776.1:n.354+49644_354+49646del | ||
NM_000439.5:c.203_205del MANE Select | NP_000430.3:p.Tyr68del | |
NM_001177875.2:c.62_64del | NP_001171346.1:p.Tyr21del |