Linked Data
ClinVar Variation Id:
5980
ClinVar RCV Id:
RCV000006346
dbSNP Id:
rs606231166
MyVariant Identifiers:
chr13:g.48835345_48835354dupTTTAATTTGT (hg19)
chr13:g.48261209_48261218dupTTTAATTTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48261210_48261219dup , CM000675.2:g.48261210_48261219dup | GRCh38 |
| NC_000013.10:g.48835346_48835355dup , CM000675.1:g.48835346_48835355dup | GRCh37 |
| NC_000013.9:g.47733347_47733356dup | NCBI36 |
| NG_013069.1:g.33073_33082dup | |
| NG_013069.2:g.33599_33608dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463839.3:c.72_81dup | ||
| ENST00000647800.2:c.787_796dup MANE Select | ENSP00000497221.1:p.Ser266PhefsTer13 | |
| ENST00000648312.1:n.835_844dup | ||
| ENST00000648586.1:n.865_874dup | ||
| ENST00000648898.1:n.717_726dup | ||
| ENST00000649266.1:c.619_628dup | ENSP00000498127.1:p.Ser210PhefsTer13 | |
| ENST00000649452.1:c.*533_*542dup | ENSP00000497877.1:n.*533_*542dup | |
| ENST00000650237.1:c.199_208dup | ||
| ENST00000378549.5:c.469_478dup | ENSP00000367811.5:p.Ser160PhefsTer13 | |
| ENST00000378565.9:c.787_796dup | ENSP00000367828.4:p.Ser266PhefsTer13 | |
| ENST00000463839.2:c.74_83dup | ||
| NM_021999.4:c.787_796dup | NP_068839.1:p.Ser266PhefsTer13 | |
| NM_021999.5:c.787_796dup MANE Select | NP_068839.1:p.Ser266PhefsTer13 |