Linked Data
gnomAD v4:
2-149570069-G-GAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570070_149570071insTA , CM000664.2:g.149570070_149570071insTA | GRCh38 |
| NC_000002.11:g.150426584_150426585insTA , CM000664.1:g.150426584_150426585insTA | GRCh37 |
| NC_000002.10:g.150134830_150134831insTA | NCBI36 |
| NG_009189.1:g.22747_22748insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.795_796insAT MANE Select | ENSP00000301920.5:p.Arg266IlefsTer10 | |
| ENST00000303319.9:c.795_796insAT | ENSP00000301920.5:p.Arg266IlefsTer10 | |
| ENST00000422782.2:c.897_898insAT | ENSP00000408331.2:p.Arg300IlefsTer10 | |
| ENST00000428879.5:c.795_796insAT | ENSP00000389060.1:p.Arg266IlefsTer10 | |
| NM_015702.2:c.795_796insAT | NP_056517.1:p.Arg266IlefsTer10 | |
| NM_015702.3:c.795_796insAT MANE Select | NP_056517.1:p.Arg266IlefsTer10 |