Linked Data
gnomAD v4:
4-186085271-C-CCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085271_186085272insCTG , CM000666.2:g.186085271_186085272insCTG | GRCh38 |
| NC_000004.11:g.187006425_187006426insCTG , CM000666.1:g.187006425_187006426insCTG | GRCh37 |
| NC_000004.10:g.187243419_187243420insCTG | NCBI36 |
| NG_007278.1:g.21117_21118insCTG , LRG_117:g.21117_21118insCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2665_*2666insCTG | ENSP00000513675.1:n.*2665_*2666insCTG | |
| ENST00000698353.1:n.2988_2989insCTG | ||
| ENST00000698354.1:c.*398_*399insCTG | ENSP00000513676.1:n.*398_*399insCTG | |
| ENST00000296795.8:c.*398_*399insCTG MANE Select | ENSP00000296795.3:n.*398_*399insCTG | |
| ENST00000296795.7:c.*398_*399insCTG | ENSP00000296795.2:n.*398_*399insCTG | |
| NM_003265.3:c.*398_*399insCTG MANE Select | NP_003256.1:n.*398_*399insCTG |