Linked Data
ClinVar Variation Id:
14897
ClinVar RCV Id:
RCV000016026
dbSNP Id:
rs864321666
PubMed:
PMID:11101832
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27182867del , CM000669.2:g.27182867del | GRCh38 |
| NC_000007.13:g.27222486del , CM000669.1:g.27222486del | GRCh37 |
| NC_000007.12:g.27189011del | NCBI36 |
| NG_012079.1:g.7351del , LRG_561:g.7351del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000006015.4:c.872del MANE Select | ENSP00000006015.3:p.Asn291ThrfsTer4 | |
| ENST00000006015.3:c.872del | ENSP00000006015.3:p.Asn291ThrfsTer4 | |
| ENST00000517402.1:c.781del | ||
| NM_005523.5:c.872del , LRG_561t1:c.872del | NP_005514.1:p.Asn291ThrfsTer4 | |
| NM_005523.6:c.872del MANE Select | NP_005514.1:p.Asn291ThrfsTer4 |