Identifiers and link-outs to other resources
ClinVar Variation Id:
372373
ClinVar RCV Id:
RCV000414704
ExAC:
5:89923307 C / CA
gnomAD:
5:89923307 C / CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90627494dup , CM000667.2:g.90627494dup | GRCh38 |
| NC_000005.9:g.89923311dup , CM000667.1:g.89923311dup | GRCh37 |
| NC_000005.8:g.89959067dup | NCBI36 |
| NG_007083.1:g.73695dup | |
| NG_007083.2:g.103151dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_032119.3:c.956dup VV | NP_115495.3:p.Asn319LysfsTer6 | |
| NR_003149.1:n.1052dup | ||
| XM_011543675.1:c.956dup | XP_011541977.1:p.Asn319LysfsTer6 | |
| XM_011543676.1:c.956dup | XP_011541978.1:p.Asn319LysfsTer6 | |
| XM_011543678.1:c.956dup | XP_011541980.1:p.Asn319LysfsTer6 | |
| XM_011543679.1:c.956dup | XP_011541981.1:p.Asn319LysfsTer6 | |
| NM_032119.4:c.956dup VV MANE Preferred | NP_115495.3:p.Asn319LysfsTer6 | |
| XM_017009963.2:c.956dup | XP_016865452.1:p.Asn319LysfsTer6 | |
| XM_017009964.2:c.956dup | XP_016865453.1:p.Asn319LysfsTer6 | |
| XM_017009965.1:c.953dup | XP_016865454.1:p.Asn318LysfsTer6 | |
| XM_017009966.2:c.956dup | XP_016865455.1:p.Asn319LysfsTer6 | |
| XM_017009967.1:c.860dup | XP_016865456.1:p.Asn287LysfsTer6 | |
| XM_017009968.2:c.956dup | XP_016865457.1:p.Asn319LysfsTer6 | |
| XM_017009969.2:c.956dup | XP_016865458.1:p.Asn319LysfsTer6 | |
| XM_017009970.2:c.956dup | XP_016865459.1:p.Asn319LysfsTer6 | |
| XM_017009971.2:c.956dup | XP_016865460.1:p.Asn319LysfsTer6 | |
| XM_017009974.2:c.956dup | XP_016865463.1:p.Asn319LysfsTer6 | |
| NR_003149.2:n.1055dup | ||
| ENST00000405460.6:c.956dup | ENSP00000384582.2:p.Asn319LysfsTer6 |