Linked Data
dbSNP Id:
rs2113819336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225797_3225798insT , CM000668.2:g.3225797_3225798insT | GRCh38 |
| NC_000006.11:g.3226031_3226032insT , CM000668.1:g.3226031_3226032insT | GRCh37 |
| NC_000006.10:g.3171030_3171031insT | NCBI36 |
| NG_016715.1:g.6937_6938insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.291_292insA MANE Select | ENSP00000259818.6:p.Gly98ArgfsTer3 | |
| ENST00000680070.1:n.1221_1222insA | ||
| ENST00000681707.1:n.1118_1119insA | ||
| ENST00000681757.1:n.596_597insA | ||
| ENST00000259818.7:c.291_292insA | ENSP00000259818.6:p.Gly98ArgfsTer3 | |
| ENST00000473006.1:n.408_409insA | ||
| NM_178012.4:c.291_292insA | NP_821080.1:p.Gly98ArgfsTer3 | |
| XM_011514571.1:c.75_76insA | XP_011512873.1:p.Gly26ArgfsTer3 | |
| NM_178012.5:c.291_292insA MANE Select | NP_821080.1:p.Gly98ArgfsTer3 |