Linked Data
dbSNP Id:
rs1429874847
gnomAD v2:
4-46995177-C-CTT
gnomAD v3:
4-46993160-C-CTT
gnomAD v4:
4-46993160-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993160_46993161insTT , CM000666.2:g.46993160_46993161insTT | GRCh38 |
| NC_000004.11:g.46995177_46995178insTT , CM000666.1:g.46995177_46995178insTT | GRCh37 |
| NC_000004.10:g.46689934_46689935insTT | NCBI36 |
| NG_011809.1:g.5403_5404insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.86+178_86+179insAA MANE Select | ENSP00000264318.3:n.86+178_86+179insAA | |
| ENST00000264318.3:c.86+178_86+179insAA | ENSP00000264318.3:n.86+178_86+179insAA | |
| ENST00000502874.1:c.86+178_86+179insAA | ENSP00000424386.1:n.86+178_86+179insAA | |
| ENST00000508560.5:c.19-215_19-214insAA | ENSP00000425445.1:n.19-215_19-214insAA | |
| ENST00000509316.1:n.210+178_210+179insAA | ||
| ENST00000511523.5:c.19-215_19-214insAA | ENSP00000422152.1:n.19-215_19-214insAA | |
| NM_000809.3:c.86+178_86+179insAA | NP_000800.2:n.86+178_86+179insAA | |
| NM_001204266.1:c.30-215_30-214insAA | NP_001191195.1:n.30-215_30-214insAA | |
| NM_001204267.1:c.30-215_30-214insAA | NP_001191196.1:n.30-215_30-214insAA | |
| XM_011513677.1:c.86+178_86+179insAA | XP_011511979.1:n.86+178_86+179insAA | |
| NM_000809.4:c.86+178_86+179insAA MANE Select | NP_000800.2:n.86+178_86+179insAA | |
| NM_001204266.2:c.30-215_30-214insAA | NP_001191195.1:n.30-215_30-214insAA | |
| NM_001204267.2:c.30-215_30-214insAA | NP_001191196.1:n.30-215_30-214insAA |