Linked Data
ClinVar Variation Id:
1436096
ClinVar RCV Id:
RCV002002005
dbSNP Id:
rs2129316266
MyVariant Identifiers:
chr8:g.55538161_55538162del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54625602_54625603del , CM000670.2:g.54625602_54625603del | GRCh38 |
| NC_000008.10:g.55538162_55538163del , CM000670.1:g.55538162_55538163del | GRCh37 |
| NC_000008.9:g.55700715_55700716del | NCBI36 |
| NG_009840.1:g.14536_14537del | |
| NG_009840.2:g.14536_14537del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.1720_1721del MANE Select | ENSP00000220676.1:p.Ser574AsnfsTer8 | |
| ENST00000636932.1:c.787+3314_787+3315del | ENSP00000489857.1:n.787+3314_787+3315del | |
| ENST00000637698.1:c.787+3314_787+3315del | ENSP00000490104.1:n.787+3314_787+3315del | |
| ENST00000220676.1:c.1720_1721del | ENSP00000220676.1:p.Ser574AsnfsTer8 | |
| NM_006269.1:c.1720_1721del | NP_006260.1:p.Ser574AsnfsTer8 | |
| XM_017013721.1:c.1741_1742del | XP_016869210.1:p.Ser581AsnfsTer8 | |
| XM_017013722.1:c.1720_1721del | XP_016869211.1:p.Ser574AsnfsTer8 | |
| NM_001375654.1:c.787+3314_787+3315del | NP_001362583.1:n.787+3314_787+3315del | |
| NM_006269.2:c.1720_1721del MANE Select | NP_006260.1:p.Ser574AsnfsTer8 |