Linked Data
dbSNP Id:
rs1751728417
gnomAD v3:
5-142392098-CCTTCCTTCCTTCCTTCCTTCCT-C
gnomAD v4:
5-142392098-CCTTCCTTCCTTCCTTCCTTCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142392099_142392120del , CM000667.2:g.142392099_142392120del | GRCh38 |
| NC_000005.9:g.141771664_141771685del , CM000667.1:g.141771664_141771685del | GRCh37 |
| NC_000005.8:g.141751848_141751869del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120664.1:n.506+38516_506+38537del |