Linked Data
ClinVar Variation Id:
5967
ClinVar RCV Id:
RCV000006331
dbSNP Id:
rs869320727
PubMed:
PMID:10391211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54626169_54626172del , CM000670.2:g.54626169_54626172del | GRCh38 |
| NC_000008.10:g.55538729_55538732del , CM000670.1:g.55538729_55538732del | GRCh37 |
| NC_000008.9:g.55701282_55701285del | NCBI36 |
| NG_009840.1:g.15103_15106del | |
| NG_009840.2:g.15103_15106del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220676.2:c.2287_2290del MANE Select | ENSP00000220676.1:p.Asn763LeufsTer11 | |
| ENST00000636932.1:c.787+3881_787+3884del | ENSP00000489857.1:n.787+3881_787+3884del | |
| ENST00000637698.1:c.787+3881_787+3884del | ENSP00000490104.1:n.787+3881_787+3884del | |
| ENST00000220676.1:c.2287_2290del | ENSP00000220676.1:p.Asn763LeufsTer11 | |
| NM_006269.1:c.2287_2290del | NP_006260.1:p.Asn763LeufsTer11 | |
| XM_017013721.1:c.2308_2311del | XP_016869210.1:p.Asn770LeufsTer11 | |
| XM_017013722.1:c.2287_2290del | XP_016869211.1:p.Asn763LeufsTer11 | |
| NM_001375654.1:c.787+3881_787+3884del | NP_001362583.1:n.787+3881_787+3884del | |
| NM_006269.2:c.2287_2290del MANE Select | NP_006260.1:p.Asn763LeufsTer11 |