Linked Data
dbSNP Id:
rs1469089068
gnomAD v2:
1-211192396-TCAACAACCAG-T
gnomAD v3:
1-211019054-TCAACAACCAG-T
gnomAD v4:
1-211019054-TCAACAACCAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211019056_211019065del , CM000663.2:g.211019056_211019065del | GRCh38 |
| NC_000001.10:g.211192398_211192407del , CM000663.1:g.211192398_211192407del | GRCh37 |
| NC_000001.9:g.209259021_209259030del | NCBI36 |
| NG_029777.1:g.120052_120061del | |
| NG_029777.2:g.120052_120061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271751.10:c.751_760del MANE Select | ENSP00000271751.4:p.Leu251IlefsTer27 | |
| ENST00000367007.5:c.751_760del | ENSP00000355974.5:p.Leu251IlefsTer27 | |
| ENST00000638357.1:c.165_174del | ||
| ENST00000638498.1:c.751_760del | ENSP00000490983.1:p.Leu251IlefsTer27 | |
| ENST00000638960.1:c.751_760del | ENSP00000492302.1:p.Leu251IlefsTer27 | |
| ENST00000638983.1:c.751_760del | ENSP00000492641.1:p.Leu251IlefsTer27 | |
| ENST00000639385.1:n.127_136del | ||
| ENST00000639602.1:c.622_631del | ENSP00000492303.1:p.Leu208IlefsTer27 | |
| ENST00000639754.1:n.954_963del | ||
| ENST00000639952.1:c.751_760del | ENSP00000492697.1:p.Leu251IlefsTer27 | |
| ENST00000640044.1:c.310+84432_310+84441del | ENSP00000491434.1:n.310+84432_310+84441del | |
| ENST00000640243.1:c.751_760del | ENSP00000492803.1:p.Leu251IlefsTer27 | |
| ENST00000640522.1:c.751_760del | ENSP00000491019.1:p.Leu251IlefsTer27 | |
| ENST00000640528.1:c.751_760del | ENSP00000491725.1:p.Leu251IlefsTer27 | |
| ENST00000640566.1:c.310+84432_310+84441del | ENSP00000491302.1:n.310+84432_310+84441del | |
| ENST00000640710.1:c.751_760del | ENSP00000492513.1:p.Leu251IlefsTer27 | |
| ENST00000640890.1:n.853_862del | ||
| ENST00000271751.8:c.751_760del | ENSP00000271751.4:p.Leu251IlefsTer27 | |
| ENST00000367007.4:c.751_760del | ENSP00000355974.4:p.Leu251IlefsTer27 | |
| NM_002238.3:c.751_760del | NP_002229.1:p.Leu251IlefsTer27 | |
| NM_172362.2:c.751_760del | NP_758872.1:p.Leu251IlefsTer27 | |
| NM_172362.3:c.751_760del MANE Select | NP_758872.1:p.Leu251IlefsTer27 | |
| NM_002238.4:c.751_760del | NP_002229.1:p.Leu251IlefsTer27 |