Linked Data
dbSNP Id:
rs1313480007
gnomAD v2:
19-55666280-TC-T
gnomAD v3:
19-55154912-TC-T
gnomAD v4:
19-55154912-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154913del , CM000681.2:g.55154913del | GRCh38 |
| NC_000019.9:g.55666281del , CM000681.1:g.55666281del | GRCh37 |
| NC_000019.8:g.60358093del | NCBI36 |
| NG_007866.2:g.7820del , LRG_432:g.7820del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.283-83del MANE Select | ENSP00000341838.5:n.283-83del | |
| ENST00000665070.1:c.283-83del | ENSP00000499482.1:n.283-83del | |
| ENST00000344887.9:c.283-83del | ENSP00000341838.5:n.283-83del | |
| ENST00000585806.5:n.282-83del | ||
| ENST00000586669.5:n.291-83del | ||
| ENST00000587176.5:n.467-83del | ||
| ENST00000587871.1:c.902-83del | ||
| ENST00000588882.1:c.208-83del | ENSP00000466729.1:n.208-83del | |
| ENST00000590463.1:n.455-83del | ||
| NM_000363.4:c.283-83del , LRG_432t1:c.283-83del | NP_000354.4:n.283-83del | |
| NM_000363.5:c.283-83del MANE Select | NP_000354.4:n.283-83del |