Linked Data
gnomAD v4:
1-204190419-C-CCCCCCCCCCCCCCCCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190420_204190421insCCCCCCCCCCCCCCTTC , CM000663.2:g.204190420_204190421insCCCCCCCCCCCCCCTTC | GRCh38 |
| NC_000001.10:g.204159548_204159549insCCCCCCCCCCCCCCTTC , CM000663.1:g.204159548_204159549insCCCCCCCCCCCCCCTTC | GRCh37 |
| NC_000001.9:g.202426171_202426172insCCCCCCCCCCCCCCTTC | NCBI36 |
| NG_032151.1:g.11072_11073insAAGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*64_*65insAAGGGGGGGGGGGGGGG MANE Select | ENSP00000356162.4:n.*64_*65insAAGGGGGGGGGGGGGGG | |
| ENST00000367194.4:c.*64_*65insAAGGGGGGGGGGGGGGG | ENSP00000356162.4:n.*64_*65insAAGGGGGGGGGGGGGGG | |
| NM_002256.3:c.*64_*65insAAGGGGGGGGGGGGGGG | NP_002247.3:n.*64_*65insAAGGGGGGGGGGGGGGG | |
| XM_011509525.1:c.*64_*65insAAGGGGGGGGGGGGGGG | XP_011507827.1:n.*64_*65insAAGGGGGGGGGGGGGGG | |
| NM_002256.4:c.*64_*65insAAGGGGGGGGGGGGGGG MANE Select | NP_002247.3:n.*64_*65insAAGGGGGGGGGGGGGGG |