Linked Data
ClinVar Variation Id:
847180
dbSNP Id:
rs754890130
gnomAD v2:
7-92147108-ATGATGAGTCAACTGG-A
gnomAD v3:
7-92517794-ATGATGAGTCAACTGG-A
gnomAD v4:
7-92517794-ATGATGAGTCAACTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517795_92517809del , CM000669.2:g.92517795_92517809del | GRCh38 |
| NC_000007.13:g.92147109_92147123del , CM000669.1:g.92147109_92147123del | GRCh37 |
| NC_000007.12:g.91985045_91985059del | NCBI36 |
| NG_008341.1:g.15723_15737del | |
| NG_008341.2:g.15723_15737del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.706_720del MANE Select | ENSP00000248633.4:p.Pro236_Ser240del | |
| ENST00000248633.8:c.706_720del | ENSP00000248633.4:p.Pro236_Ser240del | |
| ENST00000428214.5:c.706_720del | ENSP00000394413.1:p.Pro236_Ser240del | |
| ENST00000438045.5:c.274-3842_274-3828del | ENSP00000410438.1:n.274-3842_274-3828del | |
| ENST00000484913.5:n.745_759del | ||
| NM_000466.2:c.706_720del | NP_000457.1:p.Pro236_Ser240del | |
| NM_001282677.1:c.706_720del | NP_001269606.1:p.Pro236_Ser240del | |
| NM_001282678.1:c.82_96del | NP_001269607.1:p.Pro28_Ser32del | |
| XR_242246.3:n.802_816del | ||
| XR_242246.5:n.753_767del | ||
| NM_000466.3:c.706_720del MANE Select | NP_000457.1:p.Pro236_Ser240del | |
| NM_001282677.2:c.706_720del | NP_001269606.1:p.Pro236_Ser240del | |
| NM_001282678.2:c.82_96del | NP_001269607.1:p.Pro28_Ser32del |