Linked Data
ClinVar Variation Id:
551498
ClinVar RCV Id:
RCV000666575
dbSNP Id:
rs1555622505
MyVariant Identifiers:
chr17:g.42543899_42543909del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543899_42543909del , CM000679.2:g.42543899_42543909del | GRCh38 |
| NC_000017.10:g.40695917_40695927del , CM000679.1:g.40695917_40695927del | GRCh37 |
| NC_000017.9:g.37949443_37949453del | NCBI36 |
| NG_011552.1:g.12967_12977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1893_1903del MANE Select | ENSP00000225927.1:p.Glu632ArgfsTer? | |
| ENST00000225927.6:c.1893_1903del | ENSP00000225927.1:p.Glu632ArgfsTer? | |
| ENST00000591587.1:c.1231_1241del | ENSP00000467836.1:n.1231_1241del | |
| NM_000263.3:c.1893_1903del | NP_000254.2:p.Glu632ArgfsTer? | |
| XM_006721920.2:c.1062_1072del | XP_006721983.1:p.Glu355ArgfsTer? | |
| XM_011524840.1:c.894_904del | XP_011523142.1:p.Glu299ArgfsTer? | |
| XM_017024687.1:c.1062_1072del | XP_016880176.1:p.Glu355ArgfsTer? | |
| XM_024450771.1:c.1950_1960del | XP_024306539.1:p.Glu651ArgfsTer? | |
| XM_024450772.1:c.894_904del | XP_024306540.1:p.Glu299ArgfsTer? | |
| NM_000263.4:c.1893_1903del MANE Select | NP_000254.2:p.Glu632ArgfsTer? |