Linked Data
dbSNP Id:
rs200451423
gnomAD v3:
1-204190409-T-TTCCCCCCCC
gnomAD v4:
1-204190409-T-TTCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190409_204190410insTCCCCCCCC , CM000663.2:g.204190409_204190410insTCCCCCCCC | GRCh38 |
| NC_000001.10:g.204159537_204159538insTCCCCCCCC , CM000663.1:g.204159537_204159538insTCCCCCCCC | GRCh37 |
| NC_000001.9:g.202426160_202426161insTCCCCCCCC | NCBI36 |
| NG_032151.1:g.11082_11083insGGGGGGGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*74_*75insGGGGGGGGA MANE Select | ENSP00000356162.4:n.*74_*75insGGGGGGGGA | |
| ENST00000367194.4:c.*74_*75insGGGGGGGGA | ENSP00000356162.4:n.*74_*75insGGGGGGGGA | |
| NM_002256.3:c.*74_*75insGGGGGGGGA | NP_002247.3:n.*74_*75insGGGGGGGGA | |
| XM_011509525.1:c.*74_*75insGGGGGGGGA | XP_011507827.1:n.*74_*75insGGGGGGGGA | |
| NM_002256.4:c.*74_*75insGGGGGGGGA MANE Select | NP_002247.3:n.*74_*75insGGGGGGGGA |