HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565444_57565450del , CM000682.2:g.57565444_57565450del | GRCh38 |
NC_000020.10:g.56140500_56140506del , CM000682.1:g.56140500_56140506del | GRCh37 |
NC_000020.9:g.55573906_55573912del | NCBI36 |
NG_008205.1:g.9364_9370del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1509_1515del MANE Select | ENSP00000319814.4:p.His503GlnfsTer? | |
ENST00000319441.5:c.1509_1515del | ENSP00000319814.4:p.His503GlnfsTer? | |
ENST00000467047.1:n.4151_4157del | ||
NM_002591.3:c.1509_1515del | NP_002582.3:p.His503GlnfsTer? | |
XM_011528839.1:c.1113_1119del | XP_011527141.1:p.His371GlnfsTer? | |
XM_024451888.1:c.1113_1119del | XP_024307656.1:p.His371GlnfsTer? | |
NM_002591.4:c.1509_1515del MANE Select | NP_002582.3:p.His503GlnfsTer? |