Linked Data
gnomAD v4:
2-47782968-GGCCCCTCACCGCCAGCGTGCCAGCCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47782975_47783001del , CM000664.2:g.47782975_47783001del | GRCh38 |
| NC_000002.11:g.48010114_48010140del , CM000664.1:g.48010114_48010140del | GRCh37 |
| NC_000002.10:g.47863618_47863644del | NCBI36 |
| NG_007111.1:g.4829_4855del , LRG_219:g.4829_4855del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652107.1:c.-37-7952_-37-7926del | ENSP00000498629.1:n.-37-7952_-37-7926del | |
| ENST00000606499.1:c.-37-7952_-37-7926del | ENSP00000475605.1:n.-37-7952_-37-7926del |