Identifiers and link-outs to other resources
ClinVar Variation Id:
39755
ClinVar RCV Id:
RCV000032973
dbSNP Id:
rs730882073
User contributed link-outs
PubMed:
PMID:22623405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29813344del , CM000678.2:g.29813344del | GRCh38 |
| NC_000016.9:g.29824665del , CM000678.1:g.29824665del | GRCh37 |
| NC_000016.8:g.29732166del | NCBI36 |
| NG_032039.1:g.6257del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001256442.1:c.290del VV | NP_001243371.1:p.Asn98ThrfsTer17 | |
| NM_001256443.1:c.290del VV | NP_001243372.1:p.Asn98ThrfsTer17 | |
| NM_145239.2:c.290del VV | NP_660282.2:p.Asn98ThrfsTer17 | |
| XM_011545715.1:c.290del | XP_011544017.1:p.Asn98ThrfsTer17 | |
| XM_011545716.1:c.290del | XP_011544018.1:p.Asn98ThrfsTer17 | |
| XM_011545717.1:c.290del | XP_011544019.1:p.Asn98ThrfsTer17 | |
| XM_011545718.1:c.290del | XP_011544020.1:p.Asn98ThrfsTer17 | |
| XM_011545715.3:c.290del | XP_011544017.1:p.Asn98ThrfsTer17 | |
| XM_017022887.2:c.290del | XP_016878376.1:p.Asn98ThrfsTer17 | |
| XM_017022888.2:c.290del | XP_016878377.1:p.Asn98ThrfsTer17 | |
| XM_017022889.2:c.290del | XP_016878378.1:p.Asn98ThrfsTer17 | |
| NM_145239.3:c.290del VV MANE Preferred | NP_660282.2:p.Asn98ThrfsTer17 | |
| NM_001256442.2:c.290del VV | NP_001243371.1:p.Asn98ThrfsTer17 | |
| NM_001256443.2:c.290del VV | NP_001243372.1:p.Asn98ThrfsTer17 | |
| ENST00000300797.7:c.290del | ENSP00000300797.6:p.Asn98ThrfsTer17 | |
| ENST00000358758.11:c.290del | ENSP00000351608.7:p.Asn98ThrfsTer17 | |
| ENST00000562148.2:c.290del | ENSP00000454634.2:p.Asn98ThrfsTer? | |
| ENST00000567551.1:n.403del | ||
| ENST00000567659.3:c.290del | ENSP00000456226.1:p.Asn98ThrfsTer17 | |
| ENST00000572820.2:c.290del | ENSP00000458291.2:p.Asn98ThrfsTer17 | |
| ENST00000609618.2:c.290del | ENSP00000476774.2:p.Asn98ThrfsTer17 |