Linked Data
ClinVar Variation Id:
95027
ClinVar RCV Id:
RCV000081032
dbSNP Id:
rs398124139
MyVariant Identifiers:
chr16:g.3831212del (hg19)
chr16:g.3831212delC (hg19)
chr16:g.3781211del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3781215del , CM000678.2:g.3781215del | GRCh38 |
| NC_000016.9:g.3831216del , CM000678.1:g.3831216del | GRCh37 |
| NC_000016.8:g.3771217del | NCBI36 |
| NG_009873.1:g.103910del | |
| NG_009873.2:g.104503del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.1669del MANE Select | ENSP00000262367.5:p.Ala557ProfsTer5 | |
| ENST00000262367.9:c.1669del | ENSP00000262367.5:p.Ala557ProfsTer5 | |
| ENST00000382070.7:c.1555del | ENSP00000371502.3:p.Ala519ProfsTer5 | |
| ENST00000570939.2:c.274del | ENSP00000461002.2:p.Ala92ProfsTer5 | |
| NM_001079846.1:c.1555del | NP_001073315.1:p.Ala519ProfsTer5 | |
| NM_004380.2:c.1669del | NP_004371.2:p.Ala557ProfsTer5 | |
| XM_005255124.3:c.1669del | XP_005255181.1:p.Ala557ProfsTer5 | |
| XM_005255125.3:c.1669del | XP_005255182.1:p.Ala557ProfsTer5 | |
| XM_006720848.2:c.1669del | XP_006720911.1:p.Ala557ProfsTer5 | |
| XM_011522380.1:c.1615del | XP_011520682.1:p.Ala539ProfsTer5 | |
| XM_011522381.1:c.916del | XP_011520683.1:p.Ala306ProfsTer5 | |
| XM_011522382.1:c.1669del | XP_011520684.1:p.Ala557ProfsTer5 | |
| XM_005255124.4:c.1669del | XP_005255181.1:p.Ala557ProfsTer5 | |
| XM_005255125.4:c.1669del | XP_005255182.1:p.Ala557ProfsTer5 | |
| XM_006720848.3:c.1669del | XP_006720911.1:p.Ala557ProfsTer5 | |
| XM_011522381.2:c.916del | XP_011520683.1:p.Ala306ProfsTer5 | |
| XM_011522382.3:c.1669del | XP_011520684.1:p.Ala557ProfsTer5 | |
| XM_017022944.1:c.1669del | XP_016878433.1:p.Ala557ProfsTer5 | |
| NM_004380.3:c.1669del MANE Select | NP_004371.2:p.Ala557ProfsTer5 |