Linked Data
ClinVar Variation Id:
220822
dbSNP Id:
rs864622664
gnomAD v3:
5-149010293-GC-G
gnomAD v4:
5-149010293-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149010295del , CM000667.2:g.149010295del | GRCh38 |
| NC_000005.9:g.148389858del , CM000667.1:g.148389858del | GRCh37 |
| NC_000005.8:g.148370051del | NCBI36 |
| NG_007947.2:g.57881del , LRG_269:g.57881del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.3199del | ||
| ENST00000515425.6:c.3303del MANE Select | ENSP00000423660.1:p.Arg1101SerfsTer15 | |
| ENST00000675793.1:c.*2587del | ENSP00000502039.1:n.*2587del | |
| ENST00000323829.9:c.*2691del | ENSP00000313025.5:n.*2691del | |
| ENST00000504517.5:c.2833del | ENSP00000421779.1:n.2833del | |
| ENST00000504690.5:c.3303del | ENSP00000425627.1:p.Arg1101SerfsTer15 | |
| ENST00000510779.1:c.2353del | ||
| ENST00000512049.5:c.3282del | ENSP00000421860.1:p.Arg1094SerfsTer15 | |
| ENST00000515425.5:c.3303del | ENSP00000423660.1:p.Arg1101SerfsTer15 | |
| NM_024577.3:c.3303del , LRG_269t1:c.3303del | NP_078853.2:p.Arg1101SerfsTer15 | |
| NM_024577.4:c.3303del MANE Select | NP_078853.2:p.Arg1101SerfsTer15 |