Linked Data
ClinVar Variation Id:
2049899
ClinVar RCV Id:
RCV002937330
dbSNP Id:
rs1308648283
gnomAD v3:
5-178994851-AGCCCGCCGCGCGCGCCAG-A
gnomAD v4:
5-178994851-AGCCCGCCGCGCGCGCCAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994859_178994876del , CM000667.2:g.178994859_178994876del | GRCh38 |
| NC_000005.9:g.178421860_178421877del , CM000667.1:g.178421860_178421877del | GRCh37 |
| NC_000005.8:g.178354466_178354483del | NCBI36 |
| NG_008105.1:g.5255_5272del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.76_93del MANE Select | ENSP00000430767.1:p.Leu26_Gly31del | |
| ENST00000650031.1:c.76_93del | ENSP00000497110.1:p.Leu26_Gly31del | |
| ENST00000231188.9:c.76_93del | ENSP00000231188.5:p.Leu26_Gly31del | |
| ENST00000517717.1:c.76_93del | ENSP00000430767.1:p.Leu26_Gly31del | |
| NM_000843.3:c.76_93del | NP_000834.2:p.Leu26_Gly31del | |
| NM_000843.4:c.76_93del MANE Select | NP_000834.2:p.Leu26_Gly31del |