HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322872_73322881del , CM000677.2:g.73322872_73322881del | GRCh38 |
NC_000015.9:g.73615213_73615222del , CM000677.1:g.73615213_73615222del | GRCh37 |
NC_000015.8:g.71402266_71402275del | NCBI36 |
NG_009063.1:g.51392_51401del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261917.4:c.3220_3229del MANE Select | ENSP00000261917.3:p.Leu1074AlafsTer? | |
ENST00000261917.3:c.3220_3229del | ENSP00000261917.3:p.Leu1074AlafsTer? | |
NM_005477.2:c.3220_3229del | NP_005468.1:p.Leu1074AlafsTer? | |
XM_011521148.1:c.2002_2011del | XP_011519450.1:p.Leu668AlafsTer? | |
XM_011521148.2:c.2002_2011del | XP_011519450.1:p.Leu668AlafsTer? | |
NM_005477.3:c.3220_3229del MANE Select | NP_005468.1:p.Leu1074AlafsTer? |