HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94941918_94941923del , CM000672.2:g.94941918_94941923del | GRCh38 |
NC_000010.10:g.96701675_96701680del , CM000672.1:g.96701675_96701680del | GRCh37 |
NC_000010.9:g.96691665_96691670del | NCBI36 |
NG_008385.1:g.8261_8266del | |
NG_008385.2:g.8761_8766del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.229_234del MANE Select | ENSP00000260682.6:p.Leu77_His78del | |
ENST00000643112.1:c.229_234del | ENSP00000496202.1:p.Leu77_His78del | |
ENST00000645207.1:n.382_387del | ||
ENST00000260682.6:c.229_234del | ENSP00000260682.6:p.Leu77_His78del | |
ENST00000461906.1:n.254_259del | ||
NM_000771.3:c.229_234del | NP_000762.2:p.Leu77_His78del | |
NM_000771.4:c.229_234del MANE Select | NP_000762.2:p.Leu77_His78del |