Linked Data
dbSNP Id:
rs1281147216
gnomAD v2:
8-65494013-C-CAGCGGT
gnomAD v4:
8-64581456-C-CAGCGGT
MyVariant Identifiers:
chr8:g.65494013_65494014insAGCGGT (hg19)
chr8:g.64581456_64581457insAGCGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64581461_64581462insTAGCGG , CM000670.2:g.64581461_64581462insTAGCGG | GRCh38 |
| NC_000008.10:g.65494018_65494019insTAGCGG , CM000670.1:g.65494018_65494019insTAGCGG | GRCh37 |
| NC_000008.9:g.65656572_65656573insTAGCGG | NCBI36 |
| NG_051813.1:g.6224_6225insTAGCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321870.3:c.671_672insTAGCGG (BHLHE22) MANE Select | ENSP00000318799.1:p.Gly224_Gly225insSerGly | |
| ENST00000321870.2:c.671_672insTAGCGG (BHLHE22) | ENSP00000318799.1:p.Gly224_Gly225insSerGly | |
| NM_152414.4:c.671_672insTAGCGG (BHLHE22) | NP_689627.1:p.Gly224_Gly225insSerGly | |
| NR_152770.1:n.175+261_175+262insACCGCT (BHLHE22-AS1) | ||
| NM_152414.5:c.671_672insTAGCGG (BHLHE22) MANE Select | NP_689627.1:p.Gly224_Gly225insSerGly |