Linked Data
ClinVar Variation Id:
218778
dbSNP Id:
rs565100893
ExAC:
5:60628153 GGGCGGC / G
gnomAD v2:
5-60628153-GGGCGGC-G
gnomAD v3:
5-61332326-GGGCGGC-G
gnomAD v4:
5-61332326-GGGCGGC-G
COSMIC:
COSM4993702
MyVariant Identifiers:
chr5:g.60628168_60628173del (hg19)
chr5:g.60628154_60628159del (hg19)
chr5:g.60628168_60628183delinsGGGCAGCAGC (hg19)
chr5:g.60628168_60628186delinsGGGCAGCAGCGGC (hg19)
chr5:g.61332341_61332346del (hg38)
chr5:g.61332327_61332332del (hg38)
chr5:g.61332341_61332356delinsGGGCAGCAGC (hg38)
chr5:g.61332341_61332359delinsGGGCAGCAGCGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61332341_61332346del , CM000667.2:g.61332341_61332346del | GRCh38 |
| NC_000005.9:g.60628168_60628173del , CM000667.1:g.60628168_60628173del | GRCh37 |
| NC_000005.8:g.60663925_60663930del | NCBI36 |
| NG_053150.1:g.5069_5074del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252744.6:c.69_74del MANE Select | ENSP00000252744.5:p.Gly24_Gly25del | |
| ENST00000252744.5:c.69_74del | ENSP00000252744.5:p.Gly24_Gly25del | |
| NM_020928.1:c.69_74del | NP_065979.1:p.Gly24_Gly25del | |
| NM_020928.2:c.69_74del MANE Select | NP_065979.1:p.Gly24_Gly25del |