HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89776681_89776684dup , CM000677.2:g.89776681_89776684dup | GRCh38 |
NC_000015.9:g.90319912_90319915dup , CM000677.1:g.90319912_90319915dup | GRCh37 |
NC_000015.8:g.88120916_88120919dup | NCBI36 |
NG_008608.1:g.5324_5327dup | |
NG_008608.2:g.21091_21094dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000341735.5:c.324_327dup MANE Select | ENSP00000342392.3:p.Pro110AlafsTer? | |
ENST00000341735.3:c.324_327dup | ENSP00000342392.3:p.Pro110AlafsTer? | |
ENST00000558723.1:n.39-1384_39-1381dup | ||
ENST00000560219.2:c.31-1384_31-1381dup | ENSP00000452998.1:n.31-1384_31-1381dup | |
NM_001039958.1:c.324_327dup | NP_001035047.1:p.Pro110AlafsTer? | |
NM_001039958.2:c.324_327dup MANE Select | NP_001035047.1:p.Pro110AlafsTer? |