Linked Data
gnomAD v4:
2-149570027-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570028del , CM000664.2:g.149570028del | GRCh38 |
| NC_000002.11:g.150426542del , CM000664.1:g.150426542del | GRCh37 |
| NC_000002.10:g.150134788del | NCBI36 |
| NG_009189.1:g.22789del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.837del MANE Select | ENSP00000301920.5:p.Phe280SerfsTer11 | |
| ENST00000303319.9:c.837del | ENSP00000301920.5:p.Phe280SerfsTer11 | |
| ENST00000422782.2:c.939del | ENSP00000408331.2:p.Phe314SerfsTer11 | |
| ENST00000428879.5:c.837del | ENSP00000389060.1:p.Phe280SerfsTer11 | |
| NM_015702.2:c.837del | NP_056517.1:p.Phe280SerfsTer11 | |
| NM_015702.3:c.837del MANE Select | NP_056517.1:p.Phe280SerfsTer11 |