Linked Data
ClinVar Variation Id:
1417273
ClinVar RCV Id:
RCV001938248
dbSNP Id:
rs2107526351
gnomAD v4:
3-69119383-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119385del , CM000665.2:g.69119385del | GRCh38 |
| NC_000003.11:g.69168536del , CM000665.1:g.69168536del | GRCh37 |
| NC_000003.10:g.69251226del | NCBI36 |
| NG_041828.1:g.8212del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.971del MANE Select | ENSP00000414670.3:p.Gly324ValfsTer8 | |
| ENST00000420581.6:c.971del | ENSP00000414670.2:p.Gly324ValfsTer8 | |
| ENST00000475434.1:c.971del | ENSP00000418645.1:p.Gly324ValfsTer8 | |
| ENST00000489031.5:c.971del | ENSP00000417210.1:p.Gly324ValfsTer8 | |
| NM_001304418.1:c.971del | NP_001291347.1:p.Gly324ValfsTer8 | |
| NM_198271.4:c.971del | NP_938012.2:p.Gly324ValfsTer8 | |
| NM_001304418.3:c.971del | NP_001291347.1:p.Gly324ValfsTer8 | |
| NM_198271.5:c.971del MANE Select | NP_938012.2:p.Gly324ValfsTer8 |