Linked Data
gnomAD v4:
2-48755754-G-GCTGCCCTTCCACACACCCTTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48755760_48755781dup , CM000664.2:g.48755760_48755781dup | GRCh38 |
| NC_000002.11:g.48982899_48982920dup , CM000664.1:g.48982899_48982920dup | GRCh37 |
| NC_000002.10:g.48836403_48836424dup | NCBI36 |
| NG_008193.1:g.4966_4987dup | |
| NG_033050.1:g.230836_230857dup | |
| NG_008193.2:g.4966_4987dup | |
| NG_033050.2:g.230836_230857dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402114.6:c.3442-20520_3442-20499dup | ENSP00000385701.1:n.3442-20520_3442-20499dup | |
| NM_001198593.1:c.3442-20520_3442-20499dup | NP_001185522.1:n.3442-20520_3442-20499dup | |
| NM_001198593.2:c.3442-20520_3442-20499dup | NP_001185522.1:n.3442-20520_3442-20499dup |