Linked Data
dbSNP Id:
rs1259035089
gnomAD v2:
11-121178026-C-CT
gnomAD v4:
11-121307317-C-CT
MyVariant Identifiers:
chr11:g.121178026_121178027insT (hg19)
chr11:g.121307317_121307318insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307320dup , CM000673.2:g.121307320dup | GRCh38 |
| NC_000011.9:g.121178029dup , CM000673.1:g.121178029dup | GRCh37 |
| NC_000011.8:g.120683239dup | NCBI36 |
| NG_009446.1:g.19642dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.708dup MANE Select | ENSP00000264027.4:p.Asp237Ter | |
| ENST00000264027.8:c.708dup | ENSP00000264027.4:p.Asp237Ter | |
| ENST00000392789.2:c.708dup | ENSP00000376539.2:p.Asp237Ter | |
| ENST00000527183.1:n.1001dup | ||
| ENST00000534230.5:c.631+77dup | ENSP00000432550.1:n.631+77dup | |
| NM_001024956.2:c.708dup | NP_001020127.1:p.Asp237Ter | |
| NM_006918.4:c.708dup | NP_008849.2:p.Asp237Ter | |
| NM_006918.5:c.708dup MANE Select | NP_008849.2:p.Asp237Ter | |
| NM_001024956.3:c.708dup | NP_001020127.1:p.Asp237Ter |