HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565446_57565453del , CM000682.2:g.57565446_57565453del | GRCh38 |
NC_000020.10:g.56140502_56140509del , CM000682.1:g.56140502_56140509del | GRCh37 |
NC_000020.9:g.55573908_55573915del | NCBI36 |
NG_008205.1:g.9366_9373del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1511_1518del MANE Select | ENSP00000319814.4:p.Pro504GlnfsTer? | |
ENST00000319441.5:c.1511_1518del | ENSP00000319814.4:p.Pro504GlnfsTer? | |
ENST00000467047.1:n.4153_4160del | ||
NM_002591.3:c.1511_1518del | NP_002582.3:p.Pro504GlnfsTer? | |
XM_011528839.1:c.1115_1122del | XP_011527141.1:p.Pro372GlnfsTer? | |
XM_024451888.1:c.1115_1122del | XP_024307656.1:p.Pro372GlnfsTer? | |
NM_002591.4:c.1511_1518del MANE Select | NP_002582.3:p.Pro504GlnfsTer? |