HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100882993_100882998del , CM000676.2:g.100882993_100882998del | GRCh38 |
NC_000014.8:g.101349330_101349335del , CM000676.1:g.101349330_101349335del | GRCh37 |
NC_000014.7:g.100419083_100419088del | NCBI36 |
NG_045001.1:g.6850_6855del | |
NG_045000.5:g.51725_51730del | |
NG_045000.6:g.51725_51730del | |
NG_045001.2:g.25725_25730del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1791_1796del (RTL1) MANE Select | ENSP00000497482.1:p.Ala598_Gly599del | |
ENST00000534062.1:c.1791_1796del (RTL1) | ENSP00000435342.1:p.Ala598_Gly599del | |
NM_001134888.2:c.1791_1796del (RTL1) | NP_001128360.1:p.Ala598_Gly599del | |
NR_029696.1:n.15_20del (MIR127) | ||
NM_001134888.3:c.1791_1796del (RTL1) MANE Select | NP_001128360.1:p.Ala598_Gly599del |