Linked Data
gnomAD v4:
2-72891659-T-TGAGGGCAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891660_72891661insAGGGCAGGG , CM000664.2:g.72891660_72891661insAGGGCAGGG | GRCh38 |
| NC_000002.11:g.73118789_73118790insAGGGCAGGG , CM000664.1:g.73118789_73118790insAGGGCAGGG | GRCh37 |
| NC_000002.10:g.72972297_72972298insAGGGCAGGG | NCBI36 |
| NG_008234.1:g.9278_9279insAGGGCAGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.*123_*124insAGGGCAGGG MANE Select | ENSP00000234454.5:n.*123_*124insAGGGCAGGG | |
| ENST00000234454.5:c.*123_*124insAGGGCAGGG | ENSP00000234454.5:n.*123_*124insAGGGCAGGG | |
| ENST00000498749.1:n.854_855insAGGGCAGGG | ||
| NM_003124.4:c.*123_*124insAGGGCAGGG | NP_003115.1:n.*123_*124insAGGGCAGGG | |
| NM_003124.5:c.*123_*124insAGGGCAGGG MANE Select | NP_003115.1:n.*123_*124insAGGGCAGGG |