Linked Data
ClinVar Variation Id:
95069
ClinVar RCV Id:
RCV000081074
dbSNP Id:
rs398124150
MyVariant Identifiers:
chr16:g.3860669del (hg19)
chr16:g.3860669delC (hg19)
chr16:g.3810668del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3810669del , CM000678.2:g.3810669del | GRCh38 |
| NC_000016.9:g.3860670del , CM000678.1:g.3860670del | GRCh37 |
| NC_000016.8:g.3800671del | NCBI36 |
| NG_009873.1:g.74453del | |
| NG_009873.2:g.75046del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.910del MANE Select | ENSP00000262367.5:p.Val304SerfsTer? | |
| ENST00000262367.9:c.910del | ENSP00000262367.5:p.Val304SerfsTer? | |
| ENST00000382070.7:c.910del | ENSP00000371502.3:p.Val304SerfsTer? | |
| NM_001079846.1:c.910del | NP_001073315.1:p.Val304SerfsTer? | |
| NM_004380.2:c.910del | NP_004371.2:p.Val304SerfsTer? | |
| XM_005255124.3:c.910del | XP_005255181.1:p.Val304SerfsTer? | |
| XM_005255125.3:c.910del | XP_005255182.1:p.Val304SerfsTer? | |
| XM_006720848.2:c.910del | XP_006720911.1:p.Val304SerfsTer? | |
| XM_011522380.1:c.856del | XP_011520682.1:p.Val286SerfsTer? | |
| XM_011522381.1:c.157del | XP_011520683.1:p.Val53SerfsTer? | |
| XM_011522382.1:c.910del | XP_011520684.1:p.Val304SerfsTer? | |
| XM_005255124.4:c.910del | XP_005255181.1:p.Val304SerfsTer? | |
| XM_005255125.4:c.910del | XP_005255182.1:p.Val304SerfsTer? | |
| XM_006720848.3:c.910del | XP_006720911.1:p.Val304SerfsTer? | |
| XM_011522381.2:c.157del | XP_011520683.1:p.Val53SerfsTer? | |
| XM_011522382.3:c.910del | XP_011520684.1:p.Val304SerfsTer? | |
| XM_017022944.1:c.910del | XP_016878433.1:p.Val304SerfsTer? | |
| NM_004380.3:c.910del MANE Select | NP_004371.2:p.Val304SerfsTer? |