Linked Data
ClinVar Variation Id:
207978
ClinVar RCV Id:
RCV000190244
dbSNP Id:
rs797044807
PubMed:
PMID:26027496
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50354014del , CM000679.2:g.50354014del | GRCh38 |
| NC_000017.10:g.48431375del , CM000679.1:g.48431375del | GRCh37 |
| NC_000017.9:g.45786374del | NCBI36 |
| NG_012175.1:g.12983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000017003.7:c.520del MANE Select | ENSP00000017003.2:p.Ala174ProfsTer? | |
| ENST00000017003.6:c.520del | ENSP00000017003.2:p.Ala174ProfsTer? | |
| ENST00000376550.7:c.520del | ENSP00000365733.3:p.Ala174ProfsTer? | |
| ENST00000507602.5:c.520del | ENSP00000426501.1:p.Ala174ProfsTer? | |
| NM_022167.3:c.520del | NP_071450.2:p.Ala174ProfsTer? | |
| NR_110010.1:n.629del | ||
| XM_005257572.3:c.424del | XP_005257629.1:p.Ala142ProfsTer? | |
| XM_011525114.1:c.-72del | XP_011523416.1:n.-72del | |
| XM_005257572.4:c.424del | XP_005257629.1:p.Ala142ProfsTer? | |
| NM_022167.4:c.520del MANE Select | NP_071450.2:p.Ala174ProfsTer? | |
| NR_110010.2:n.535del |