Linked Data
gnomAD v4:
1-204190415-C-CCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190417_204190418insACC , CM000663.2:g.204190417_204190418insACC | GRCh38 |
| NC_000001.10:g.204159545_204159546insACC , CM000663.1:g.204159545_204159546insACC | GRCh37 |
| NC_000001.9:g.202426168_202426169insACC | NCBI36 |
| NG_032151.1:g.11076_11077insTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*68_*69insTGG MANE Select | ENSP00000356162.4:n.*68_*69insTGG | |
| ENST00000367194.4:c.*68_*69insTGG | ENSP00000356162.4:n.*68_*69insTGG | |
| NM_002256.3:c.*68_*69insTGG | NP_002247.3:n.*68_*69insTGG | |
| XM_011509525.1:c.*68_*69insTGG | XP_011507827.1:n.*68_*69insTGG | |
| NM_002256.4:c.*68_*69insTGG MANE Select | NP_002247.3:n.*68_*69insTGG |