HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89776877_89776888del , CM000677.2:g.89776877_89776888del | GRCh38 |
NC_000015.9:g.90320108_90320119del , CM000677.1:g.90320108_90320119del | GRCh37 |
NC_000015.8:g.88121112_88121123del | NCBI36 |
NG_008608.1:g.5520_5531del | |
NG_008608.2:g.21287_21298del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000341735.5:c.520_531del MANE Select | ENSP00000342392.3:p.Gln174_Ala177del | |
ENST00000341735.3:c.520_531del | ENSP00000342392.3:p.Gln174_Ala177del | |
ENST00000558723.1:n.39-1188_39-1177del | ||
ENST00000560219.2:c.31-1188_31-1177del | ENSP00000452998.1:n.31-1188_31-1177del | |
NM_001039958.1:c.520_531del | NP_001035047.1:p.Gln174_Ala177del | |
NM_001039958.2:c.520_531del MANE Select | NP_001035047.1:p.Gln174_Ala177del |