Linked Data
dbSNP Id:
rs1353473548
gnomAD v2:
7-147579861-AG-A
gnomAD v3:
7-147882769-AG-A
gnomAD v4:
7-147882769-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147882770del , CM000669.2:g.147882770del | GRCh38 |
| NC_000007.13:g.147579862del , CM000669.1:g.147579862del | GRCh37 |
| NC_000007.12:g.147210795del | NCBI36 |
| NG_007092.2:g.1771410del | |
| NG_007092.3:g.1771770del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2099-20795del MANE Select | ENSP00000354778.3:n.2099-20795del | |
| ENST00000636870.1:n.1961-20795del | ||
| ENST00000637825.1:n.1582-20795del | ||
| ENST00000361727.7:c.2099-20795del | ENSP00000354778.3:n.2099-20795del | |
| ENST00000455301.2:n.34-20795del | ||
| ENST00000627772.2:n.272-20795del | ||
| NM_014141.5:c.2099-20795del | NP_054860.1:n.2099-20795del | |
| XM_006715919.1:c.587-20795del | XP_006715982.1:n.587-20795del | |
| NM_014141.6:c.2099-20795del MANE Select | NP_054860.1:n.2099-20795del |