Linked Data
dbSNP Id:
rs755764292
ExAC:
17:39768436 TGAA / T
gnomAD v2:
17-39768436-TGAA-T
gnomAD v3:
17-41612184-TGAA-T
gnomAD v4:
17-41612184-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612186_41612188del , CM000679.2:g.41612186_41612188del | GRCh38 |
| NC_000017.10:g.39768438_39768440del , CM000679.1:g.39768438_39768440del | GRCh37 |
| NC_000017.9:g.37021964_37021966del | NCBI36 |
| NG_008301.1:g.5641_5643del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.502_504del MANE Select | ENSP00000301653.3:p.Phe168del | |
| ENST00000301653.8:c.502_504del | ENSP00000301653.3:p.Phe168del | |
| ENST00000588319.1:n.579_581del | ||
| ENST00000593067.1:c.-213_-211del | ENSP00000467124.1:n.-213_-211del | |
| NM_005557.3:c.502_504del | NP_005548.2:p.Phe168del | |
| NM_005557.4:c.502_504del MANE Select | NP_005548.2:p.Phe168del |