Linked Data
ClinVar Variation Id:
551189
ClinVar RCV Id:
RCV000666178
dbSNP Id:
rs1225601391
gnomAD v4:
5-149980461-TG-T
MyVariant Identifiers:
chr5:g.149360025del (hg19)
chr5:g.149980463del (hg38)
chr5:g.149980462del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980463del , CM000667.2:g.149980463del | GRCh38 |
| NC_000005.9:g.149360026del , CM000667.1:g.149360026del | GRCh37 |
| NC_000005.8:g.149340219del | NCBI36 |
| NG_007147.2:g.21581del , LRG_684:g.21581del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.870del MANE Select | ENSP00000286298.4:p.Trp290Ter | |
| ENST00000286298.4:c.870del | ENSP00000286298.4:p.Trp290Ter | |
| ENST00000503336.1:c.372+2112del | ENSP00000426053.1:n.372+2112del | |
| NM_000112.3:c.870del , LRG_684t1:c.870del | NP_000103.2:p.Trp290Ter | |
| XM_017009191.2:c.870del | XP_016864680.1:p.Trp290Ter | |
| NM_000112.4:c.870del MANE Select | NP_000103.2:p.Trp290Ter |