Linked Data
gnomAD v4:
4-186085247-A-AAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085247_186085248insAT , CM000666.2:g.186085247_186085248insAT | GRCh38 |
| NC_000004.11:g.187006401_187006402insAT , CM000666.1:g.187006401_187006402insAT | GRCh37 |
| NC_000004.10:g.187243395_187243396insAT | NCBI36 |
| NG_007278.1:g.21093_21094insAT , LRG_117:g.21093_21094insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2641_*2642insAT | ENSP00000513675.1:n.*2641_*2642insAT | |
| ENST00000698353.1:n.2964_2965insAT | ||
| ENST00000698354.1:c.*374_*375insAT | ENSP00000513676.1:n.*374_*375insAT | |
| ENST00000296795.8:c.*374_*375insAT MANE Select | ENSP00000296795.3:n.*374_*375insAT | |
| ENST00000296795.7:c.*374_*375insAT | ENSP00000296795.2:n.*374_*375insAT | |
| NM_003265.3:c.*374_*375insAT MANE Select | NP_003256.1:n.*374_*375insAT |