Linked Data
gnomAD v4:
17-47283487-C-CAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283487_47283488insAG , CM000679.2:g.47283487_47283488insAG | GRCh38 |
| NC_000017.10:g.45360853_45360854insAG , CM000679.1:g.45360853_45360854insAG | GRCh37 |
| NC_000017.9:g.42715852_42715853insAG | NCBI36 |
| NG_008332.2:g.34646_34647insAG , LRG_481:g.34646_34647insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.299_300insAG | ENSP00000513002.1:p.Gly101ValfsTer? | |
| ENST00000559488.7:c.299_300insAG MANE Select | ENSP00000452786.2:p.Gly101ValfsTer? | |
| ENST00000559488.5:c.299_300insAG | ENSP00000452786.1:p.Gly101ValfsTer? | |
| ENST00000560629.1:c.264_265insAG | ||
| ENST00000571680.1:c.299_300insAG | ENSP00000461626.1:p.Gly101ValfsTer? | |
| NM_000212.2:c.299_300insAG , LRG_481t1:c.299_300insAG | NP_000203.2:p.Gly101ValfsTer? | |
| NM_000212.3:c.299_300insAG MANE Select | NP_000203.2:p.Gly101ValfsTer? |