Linked Data
dbSNP Id:
rs1751729989
gnomAD v3:
5-142392113-TCCTTCCTTCCTTC-T
gnomAD v4:
5-142392113-TCCTTCCTTCCTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142392115_142392127del , CM000667.2:g.142392115_142392127del | GRCh38 |
| NC_000005.9:g.141771680_141771692del , CM000667.1:g.141771680_141771692del | GRCh37 |
| NC_000005.8:g.141751864_141751876del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120664.1:n.506+38532_506+38544del |