Linked Data
gnomAD v4:
1-204190428-C-CCCCCCCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190431_204190432insCCCCACCC , CM000663.2:g.204190431_204190432insCCCCACCC | GRCh38 |
| NC_000001.10:g.204159559_204159560insCCCCACCC , CM000663.1:g.204159559_204159560insCCCCACCC | GRCh37 |
| NC_000001.9:g.202426182_202426183insCCCCACCC | NCBI36 |
| NG_032151.1:g.11063_11064insTGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*55_*56insTGGGGGGG MANE Select | ENSP00000356162.4:n.*55_*56insTGGGGGGG | |
| ENST00000367194.4:c.*55_*56insTGGGGGGG | ENSP00000356162.4:n.*55_*56insTGGGGGGG | |
| NM_002256.3:c.*55_*56insTGGGGGGG | NP_002247.3:n.*55_*56insTGGGGGGG | |
| XM_011509525.1:c.*55_*56insTGGGGGGG | XP_011507827.1:n.*55_*56insTGGGGGGG | |
| NM_002256.4:c.*55_*56insTGGGGGGG MANE Select | NP_002247.3:n.*55_*56insTGGGGGGG |