HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39507455_39507461del , CM000681.2:g.39507455_39507461del | GRCh38 |
NC_000019.9:g.39998095_39998101del , CM000681.1:g.39998095_39998101del | GRCh37 |
NC_000019.8:g.44689935_44689941del | NCBI36 |
NG_008256.1:g.13539_13545del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356433.10:c.1510_1516del MANE Select | ENSP00000348810.4:p.Gly504ProfsTer? | |
ENST00000205143.4:c.1510_1516del | ENSP00000205143.3:p.Gly504ProfsTer? | |
ENST00000356433.9:c.1510_1516del | ENSP00000348810.4:p.Gly504ProfsTer? | |
NM_016941.3:c.1510_1516del | NP_058637.1:p.Gly504ProfsTer? | |
NM_203486.2:c.1510_1516del | NP_982353.1:p.Gly504ProfsTer? | |
NM_016941.4:c.1510_1516del | NP_058637.1:p.Gly504ProfsTer? | |
NM_203486.3:c.1510_1516del MANE Select | NP_982353.1:p.Gly504ProfsTer? |