Linked Data
gnomAD v4:
1-204190419-C-CCCCCCCCCCCCCCCCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190420_204190421insCCCCCCCCCCCCCCCCTC , CM000663.2:g.204190420_204190421insCCCCCCCCCCCCCCCCTC | GRCh38 |
| NC_000001.10:g.204159548_204159549insCCCCCCCCCCCCCCCCTC , CM000663.1:g.204159548_204159549insCCCCCCCCCCCCCCCCTC | GRCh37 |
| NC_000001.9:g.202426171_202426172insCCCCCCCCCCCCCCCCTC | NCBI36 |
| NG_032151.1:g.11072_11073insAGGGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*64_*65insAGGGGGGGGGGGGGGGGG MANE Select | ENSP00000356162.4:n.*64_*65insAGGGGGGGGGGGGGGGGG | |
| ENST00000367194.4:c.*64_*65insAGGGGGGGGGGGGGGGGG | ENSP00000356162.4:n.*64_*65insAGGGGGGGGGGGGGGGGG | |
| NM_002256.3:c.*64_*65insAGGGGGGGGGGGGGGGGG | NP_002247.3:n.*64_*65insAGGGGGGGGGGGGGGGGG | |
| XM_011509525.1:c.*64_*65insAGGGGGGGGGGGGGGGGG | XP_011507827.1:n.*64_*65insAGGGGGGGGGGGGGGGGG | |
| NM_002256.4:c.*64_*65insAGGGGGGGGGGGGGGGGG MANE Select | NP_002247.3:n.*64_*65insAGGGGGGGGGGGGGGGGG |