Linked Data
ClinVar Variation Id:
3051297
ClinVar RCV Id:
RCV003957344
dbSNP Id:
rs767586523
ExAC:
7:27135310 GTGGCGA / G
gnomAD v2:
7-27135310-GTGGCGA-G
gnomAD v3:
7-27095691-GTGGCGA-G
gnomAD v4:
7-27095691-GTGGCGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095695_27095700del , CM000669.2:g.27095695_27095700del | GRCh38 |
| NC_000007.13:g.27135314_27135319del , CM000669.1:g.27135314_27135319del | GRCh37 |
| NC_000007.12:g.27101839_27101844del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643460.2:c.216_221del MANE Select | ENSP00000494260.2:p.Arg73_His74del | |
| ENST00000343060.4:c.216_221del | ENSP00000343246.4:p.Arg73_His74del | |
| ENST00000355633.5:c.216_221del | ENSP00000347851.5:p.Arg73_His74del | |
| NM_005522.5:c.216_221del MANE Select | NP_005513.2:p.Arg73_His74del | |
| NM_153620.3:c.216_221del | NP_705873.3:p.Arg73_His74del |