Linked Data
gnomAD v3:
5-142392092-C-CTCCTTCCTTCCTTCCTTCCT
gnomAD v4:
5-142392092-C-CTCCTTCCTTCCTTCCTTCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142392152_142392171dup , CM000667.2:g.142392152_142392171dup | GRCh38 |
| NC_000005.9:g.141771717_141771736dup , CM000667.1:g.141771717_141771736dup | GRCh37 |
| NC_000005.8:g.141751901_141751920dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120664.1:n.506+38569_506+38588dup |