Linked Data
dbSNP Id:
rs1751730453
gnomAD v3:
5-142392124-TTCCTTCCTTCCTTCC-T
gnomAD v4:
5-142392124-TTCCTTCCTTCCTTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142392126_142392140del , CM000667.2:g.142392126_142392140del | GRCh38 |
| NC_000005.9:g.141771691_141771705del , CM000667.1:g.141771691_141771705del | GRCh37 |
| NC_000005.8:g.141751875_141751889del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120664.1:n.506+38543_506+38557del |