Linked Data
gnomAD v4:
2-149569770-ATGTGTTCAACG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149569774_149569784del , CM000664.2:g.149569774_149569784del | GRCh38 |
| NC_000002.11:g.150426288_150426298del , CM000664.1:g.150426288_150426298del | GRCh37 |
| NC_000002.10:g.150134534_150134544del | NCBI36 |
| NG_009189.1:g.23036_23046del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.*193_*203del MANE Select | ENSP00000301920.5:n.*193_*203del | |
| ENST00000303319.9:c.*193_*203del | ENSP00000301920.5:n.*193_*203del | |
| ENST00000422782.2:c.*193_*203del | ENSP00000408331.2:n.*193_*203del | |
| ENST00000428879.5:c.*193_*203del | ENSP00000389060.1:n.*193_*203del | |
| NM_015702.2:c.*193_*203del | NP_056517.1:n.*193_*203del | |
| NM_015702.3:c.*193_*203del MANE Select | NP_056517.1:n.*193_*203del |