Linked Data
gnomAD v3:
5-177992760-T-TGGGGGGGTGCTGGGGGGGGGGG
gnomAD v4:
5-177992760-T-TGGGGGGGTGCTGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992766_177992767insGTGCTGGGGGGGGGGGGGGGGG , CM000667.2:g.177992766_177992767insGTGCTGGGGGGGGGGGGGGGGG | GRCh38 |
| NC_000005.9:g.177419767_177419768insGTGCTGGGGGGGGGGGGGGGGG , CM000667.1:g.177419767_177419768insGTGCTGGGGGGGGGGGGGGGGG | GRCh37 |
| NC_000005.8:g.177352373_177352374insGTGCTGGGGGGGGGGGGGGGGG | NCBI36 |
| NG_015889.1:g.8482_8483insCCCCCCCCCCCAGCACCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.629_630insCCCCCCCCCCCAGCACCCCCCC MANE Select | ENSP00000311290.2:p.Met214GlnfsTer14 | |
| NM_006261.4:c.629_630insCCCCCCCCCCCAGCACCCCCCC | NP_006252.3:p.Met214GlnfsTer14 | |
| NM_006261.5:c.629_630insCCCCCCCCCCCAGCACCCCCCC MANE Select | NP_006252.4:p.Met214GlnfsTer14 |