Linked Data
ClinVar Variation Id:
439570
ClinVar RCV Id:
RCV000506565
dbSNP Id:
rs373970317
ExAC:
1:15772049 TG / T
gnomAD v2:
1-15772049-TG-T
gnomAD v3:
1-15445554-TG-T
gnomAD v4:
1-15445554-TG-T
COSMIC:
COSN5853823
MyVariant Identifiers:
chr1:g.15772058del (hg19)
chr1:g.15772050del (hg19)
chr1:g.15445563del (hg38)
chr1:g.15445555del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445563del , CM000663.2:g.15445563del | GRCh38 |
| NC_000001.10:g.15772058del , CM000663.1:g.15772058del | GRCh37 |
| NC_000001.9:g.15644645del | NCBI36 |
| NG_009253.1:g.12121del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.640-34del MANE Select | ENSP00000365116.4:n.640-34del | |
| ENST00000375943.6:c.*94-34del | ENSP00000365110.2:n.*94-34del | |
| ENST00000375949.4:c.640-34del | ENSP00000365116.4:n.640-34del | |
| ENST00000483406.1:n.404-34del | ||
| NM_007272.2:c.640-34del | NP_009203.2:n.640-34del | |
| XM_011540550.1:c.494-34del | XP_011538852.1:n.494-34del | |
| NM_007272.3:c.640-34del MANE Select | NP_009203.2:n.640-34del |