Linked Data
ClinVar Variation Id:
2107991
ClinVar RCV Id:
RCV003017560
dbSNP Id:
rs1433868678
gnomAD v2:
5-178421858-CCG-C
gnomAD v4:
5-178994857-CCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994865_178994866del , CM000667.2:g.178994865_178994866del | GRCh38 |
| NC_000005.9:g.178421866_178421867del , CM000667.1:g.178421866_178421867del | GRCh37 |
| NC_000005.8:g.178354472_178354473del | NCBI36 |
| NG_008105.1:g.5265_5266del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.86_87del MANE Select | ENSP00000430767.1:p.Ala29GlyfsTer? | |
| ENST00000650031.1:c.86_87del | ENSP00000497110.1:p.Ala29GlyfsTer? | |
| ENST00000231188.9:c.86_87del | ENSP00000231188.5:p.Ala29GlyfsTer? | |
| ENST00000517717.1:c.86_87del | ENSP00000430767.1:p.Ala29GlyfsTer? | |
| NM_000843.3:c.86_87del | NP_000834.2:p.Ala29GlyfsTer? | |
| NM_000843.4:c.86_87del MANE Select | NP_000834.2:p.Ala29GlyfsTer? |