Linked Data
dbSNP Id:
rs753180594
ExAC:
5:148407245 AT / A
gnomAD v2:
5-148407245-AT-A
gnomAD v4:
5-149027682-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027685del , CM000667.2:g.149027685del | GRCh38 |
| NC_000005.9:g.148407248del , CM000667.1:g.148407248del | GRCh37 |
| NC_000005.8:g.148387441del | NCBI36 |
| NG_007947.2:g.40492del , LRG_269:g.40492del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1945del | ||
| ENST00000515425.6:c.2049del MANE Select | ENSP00000423660.1:p.Lys683AsnfsTer? | |
| ENST00000675793.1:c.*1333del | ENSP00000502039.1:n.*1333del | |
| ENST00000676056.1:c.*1559del | ENSP00000501827.1:n.*1559del | |
| ENST00000323829.9:c.*1437del | ENSP00000313025.5:n.*1437del | |
| ENST00000504517.5:c.1579del | ENSP00000421779.1:n.1579del | |
| ENST00000504690.5:c.2049del | ENSP00000425627.1:p.Lys683AsnfsTer? | |
| ENST00000510779.1:c.1099del | ||
| ENST00000511307.5:c.*1829del | ENSP00000421420.1:n.*1829del | |
| ENST00000512049.5:c.2028del | ENSP00000421860.1:p.Lys676AsnfsTer? | |
| ENST00000513604.5:c.*1437del | ENSP00000423111.1:n.*1437del | |
| ENST00000515425.5:c.2049del | ENSP00000423660.1:p.Lys683AsnfsTer? | |
| NM_024577.3:c.2049del , LRG_269t1:c.2049del | NP_078853.2:p.Lys683AsnfsTer? | |
| NM_024577.4:c.2049del MANE Select | NP_078853.2:p.Lys683AsnfsTer? |