Linked Data
ClinVar Variation Id:
1146066
ClinVar RCV Id:
RCV001485184
dbSNP Id:
rs1189206125
gnomAD v2:
5-178421873-CCGCCTGCGCCAGCCA-C
gnomAD v3:
5-178994872-CCGCCTGCGCCAGCCA-C
gnomAD v4:
5-178994872-CCGCCTGCGCCAGCCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994877_178994891del , CM000667.2:g.178994877_178994891del | GRCh38 |
| NC_000005.9:g.178421878_178421892del , CM000667.1:g.178421878_178421892del | GRCh37 |
| NC_000005.8:g.178354484_178354498del | NCBI36 |
| NG_008105.1:g.5237_5251del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.58_72del MANE Select | ENSP00000430767.1:p.Trp20_Ala24del | |
| ENST00000650031.1:c.58_72del | ENSP00000497110.1:p.Trp20_Ala24del | |
| ENST00000231188.9:c.58_72del | ENSP00000231188.5:p.Trp20_Ala24del | |
| ENST00000517717.1:c.58_72del | ENSP00000430767.1:p.Trp20_Ala24del | |
| NM_000843.3:c.58_72del | NP_000834.2:p.Trp20_Ala24del | |
| NM_000843.4:c.58_72del MANE Select | NP_000834.2:p.Trp20_Ala24del |