Linked Data
ClinVar Variation Id:
16597
ClinVar RCV Id:
RCV000018067
dbSNP Id:
rs1555716047
PubMed:
PMID:9292543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11378230dup , CM000681.2:g.11378230dup | GRCh38 |
| NC_000019.9:g.11488906dup , CM000681.1:g.11488906dup | GRCh37 |
| NC_000019.8:g.11349906dup | NCBI36 |
| NG_021395.1:g.11113dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222139.11:c.1281dup MANE Select | ENSP00000222139.5:p.Ile428TyrfsTer17 | |
| ENST00000222139.10:c.1281dup | ENSP00000222139.5:p.Ile428TyrfsTer17 | |
| ENST00000586890.5:c.*1024dup | ENSP00000467230.1:n.*1024dup | |
| ENST00000588681.5:n.1666dup | ||
| ENST00000588859.5:c.*1024dup | ENSP00000466784.1:n.*1024dup | |
| ENST00000591958.5:c.*659dup | ENSP00000468187.1:n.*659dup | |
| ENST00000592375.6:c.*389dup | ENSP00000467809.2:n.*389dup | |
| NM_000121.3:c.1281dup | NP_000112.1:p.Ile428TyrfsTer17 | |
| NR_033663.1:n.1666dup | ||
| NM_000121.4:c.1281dup MANE Select | NP_000112.1:p.Ile428TyrfsTer17 | |
| NR_033663.2:n.1638dup |