Linked Data
gnomAD v4:
17-49995143-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49995144_49995145del , CM000679.2:g.49995144_49995145del | GRCh38 |
| NC_000017.10:g.48072508_48072509del , CM000679.1:g.48072508_48072509del | GRCh37 |
| NC_000017.9:g.45427507_45427508del | NCBI36 |
| NG_023063.1:g.5080_5081del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.-147_-146del MANE Select | ENSP00000389870.2:n.-147_-146del | |
| NM_005220.2:c.-147_-146del | NP_005211.1:n.-147_-146del | |
| XM_011524458.1:c.-147_-146del | XP_011522760.1:n.-147_-146del | |
| NM_005220.3:c.-147_-146del MANE Select | NP_005211.1:n.-147_-146del |