Linked Data
ClinVar Variation Id:
557846
dbSNP Id:
rs1553320451
MyVariant Identifiers:
chr1:g.216246778del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246778del , CM000663.2:g.216246778del | GRCh38 |
| NC_000001.10:g.216420120del , CM000663.1:g.216420120del | GRCh37 |
| NC_000001.9:g.214486743del | NCBI36 |
| NG_009497.1:g.181619del | |
| NG_009497.2:g.181671del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2616del MANE Select | ENSP00000305941.3:p.Val874Ter | |
| ENST00000674083.1:c.2616del | ENSP00000501296.1:p.Val874Ter | |
| ENST00000307340.7:c.2616del | ENSP00000305941.3:p.Val874Ter | |
| ENST00000366942.3:c.2616del | ENSP00000355909.3:p.Val874Ter | |
| NM_007123.5:c.2616del | NP_009054.5:p.Val874Ter | |
| NM_206933.2:c.2616del | NP_996816.2:p.Val874Ter | |
| NM_206933.3:c.2616del | NP_996816.2:p.Val874Ter | |
| NM_007123.6:c.2616del | NP_009054.6:p.Val874Ter | |
| NM_206933.4:c.2616del MANE Select | NP_996816.3:p.Val874Ter |