Linked Data
ClinVar Variation Id:
39082
ClinVar RCV Id:
RCV000032349
dbSNP Id:
rs281864957
MyVariant Identifiers:
chr12:g.102179843_102179844insT (hg19)
chr12:g.101786065_101786066insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786065_101786066insT , CM000674.2:g.101786065_101786066insT | GRCh38 |
| NC_000012.11:g.102179843_102179844insT , CM000674.1:g.102179843_102179844insT | GRCh37 |
| NC_000012.10:g.100703974_100703975insT | NCBI36 |
| NG_021243.1:g.49802_49803insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.517_518insA MANE Select | ENSP00000299314.7:p.Pro173HisfsTer14 | |
| ENST00000299314.11:c.517_518insA | ENSP00000299314.7:p.Pro173HisfsTer14 | |
| ENST00000549940.5:c.517_518insA | ENSP00000449150.1:p.Pro173HisfsTer14 | |
| ENST00000550352.1:n.311_312insA | ||
| ENST00000552681.1:c.151_152insA | ENSP00000449217.1:p.Pro51HisfsTer14 | |
| NM_024312.4:c.517_518insA | NP_077288.2:p.Pro173HisfsTer14 | |
| XM_006719593.2:c.517_518insA | XP_006719656.1:p.Pro173HisfsTer14 | |
| XM_011538731.1:c.436_437insA | XP_011537033.1:p.Pro146HisfsTer14 | |
| XM_006719593.3:c.517_518insA | XP_006719656.1:p.Pro173HisfsTer14 | |
| XM_011538731.2:c.436_437insA | XP_011537033.1:p.Pro146HisfsTer14 | |
| XM_017019961.1:c.301_302insA | XP_016875450.1:p.Pro101HisfsTer14 | |
| XM_017019962.2:c.-834_-833insA | XP_016875451.1:n.-834_-833insA | |
| NM_024312.5:c.517_518insA MANE Select | NP_077288.2:p.Pro173HisfsTer14 |