Linked Data
dbSNP Id:
rs777277860
ExAC:
11:66328212 AC / A
gnomAD v2:
11-66328212-AC-A
gnomAD v3:
11-66560741-AC-A
gnomAD v4:
11-66560741-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560743del , CM000673.2:g.66560743del | GRCh38 |
| NC_000011.9:g.66328214del , CM000673.1:g.66328214del | GRCh37 |
| NC_000011.8:g.66084790del | NCBI36 |
| NG_013304.2:g.18824del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1848del MANE Select | ENSP00000426797.1:p.Lys617SerfsTer25 | |
| ENST00000502692.5:c.1977del | ENSP00000422007.1:p.Lys660SerfsTer25 | |
| ENST00000513398.1:c.1848del | ENSP00000426797.1:p.Lys617SerfsTer25 | |
| NM_001104.3:c.1848del | NP_001095.2:p.Lys617SerfsTer25 | |
| NM_001258371.2:c.1977del | NP_001245300.2:p.Lys660SerfsTer25 | |
| NM_001104.4:c.1848del MANE Select | NP_001095.2:p.Lys617SerfsTer25 | |
| NM_001258371.3:c.1977del | NP_001245300.2:p.Lys660SerfsTer25 |