Linked Data
dbSNP Id:
rs1569080856
gnomAD v2:
22-19882862-T-TGA
gnomAD v3:
22-19895339-T-TGA
gnomAD v4:
22-19895339-T-TGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895340_19895341insAG , CM000684.2:g.19895340_19895341insAG | GRCh38 |
| NC_000022.10:g.19882863_19882864insAG , CM000684.1:g.19882863_19882864insAG | GRCh37 |
| NC_000022.9:g.18262863_18262864insAG | NCBI36 |
| NG_011835.1:g.51497_51498insTC , LRG_417:g.51497_51498insTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.949+67_949+68insTC MANE Select | ENSP00000383365.1:n.949+67_949+68insTC | |
| ENST00000334363.14:c.949+67_949+68insTC | ENSP00000334451.9:n.949+67_949+68insTC | |
| ENST00000400518.5:c.859+67_859+68insTC | ENSP00000383362.1:n.859+67_859+68insTC | |
| ENST00000400519.6:c.946+67_946+68insTC | ENSP00000383363.1:n.946+67_946+68insTC | |
| ENST00000400521.6:c.949+67_949+68insTC | ENSP00000383365.1:n.949+67_949+68insTC | |
| ENST00000400525.6:c.880+67_880+68insTC | ENSP00000383369.3:n.880+67_880+68insTC | |
| ENST00000474308.5:c.892+67_892+68insTC | ENSP00000485665.1:n.892+67_892+68insTC | |
| ENST00000475995.3:c.447-20_447-19insTC | ||
| ENST00000491939.6:c.853+67_853+68insTC | ENSP00000485543.1:n.853+67_853+68insTC | |
| ENST00000494454.5:n.1023+67_1023+68insTC | ||
| ENST00000542719.6:c.661+67_661+68insTC | ENSP00000485128.2:n.661+67_661+68insTC | |
| ENST00000634537.1:c.178+67_178+68insTC | ENSP00000489208.1:n.178+67_178+68insTC | |
| ENST00000635155.1:n.535+67_535+68insTC | ||
| NM_001282512.1:c.949+67_949+68insTC | NP_001269441.1:n.949+67_949+68insTC | |
| NM_006440.4:c.949+67_949+68insTC | NP_006431.2:n.949+67_949+68insTC | |
| NM_001282512.2:c.949+67_949+68insTC | NP_001269441.1:n.949+67_949+68insTC | |
| NM_001352300.1:c.946+67_946+68insTC | NP_001339229.1:n.946+67_946+68insTC | |
| NM_001352301.1:c.859+67_859+68insTC | NP_001339230.1:n.859+67_859+68insTC | |
| NM_001352302.1:c.661+67_661+68insTC | NP_001339231.1:n.661+67_661+68insTC | |
| NM_001352303.1:c.853+67_853+68insTC | NP_001339232.1:n.853+67_853+68insTC | |
| NR_147957.1:n.1081+67_1081+68insTC | ||
| NM_006440.5:c.949+67_949+68insTC MANE Select | NP_006431.2:n.949+67_949+68insTC | |
| NM_001282512.3:c.949+67_949+68insTC | NP_001269441.1:n.949+67_949+68insTC | |
| NM_001352300.2:c.946+67_946+68insTC | NP_001339229.1:n.946+67_946+68insTC | |
| NR_147957.2:n.907+67_907+68insTC | ||
| NM_001352301.2:c.859+67_859+68insTC | NP_001339230.1:n.859+67_859+68insTC | |
| NM_001352302.2:c.661+67_661+68insTC | NP_001339231.1:n.661+67_661+68insTC | |
| NM_001352303.2:c.853+67_853+68insTC | NP_001339232.1:n.853+67_853+68insTC |