Linked Data
gnomAD v4:
8-64581453-C-CGGCAGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64581458_64581459insTGGCAG , CM000670.2:g.64581458_64581459insTGGCAG | GRCh38 |
| NC_000008.10:g.65494015_65494016insTGGCAG , CM000670.1:g.65494015_65494016insTGGCAG | GRCh37 |
| NC_000008.9:g.65656569_65656570insTGGCAG | NCBI36 |
| NG_051813.1:g.6221_6222insTGGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321870.3:c.668_669insTGGCAG (BHLHE22) MANE Select | ENSP00000318799.1:p.Ser223_Gly224insGlySer | |
| ENST00000321870.2:c.668_669insTGGCAG (BHLHE22) | ENSP00000318799.1:p.Ser223_Gly224insGlySer | |
| NM_152414.4:c.668_669insTGGCAG (BHLHE22) | NP_689627.1:p.Ser223_Gly224insGlySer | |
| NR_152770.1:n.175+264_175+265insACTGCC (BHLHE22-AS1) | ||
| NM_152414.5:c.668_669insTGGCAG (BHLHE22) MANE Select | NP_689627.1:p.Ser223_Gly224insGlySer |