Linked Data
ClinVar Variation Id:
557999
ClinVar RCV Id:
RCV000674210
dbSNP Id:
rs1555203401
MyVariant Identifiers:
chr12:g.102840506del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840506del , CM000674.2:g.102840506del | GRCh38 |
| NC_000012.11:g.103234284del , CM000674.1:g.103234284del | GRCh37 |
| NC_000012.10:g.101758414del | NCBI36 |
| NG_008690.1:g.82097del | |
| NG_008690.2:g.122905del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1209del MANE Select | ENSP00000448059.1:p.Ala404ProfsTer? | |
| ENST00000307000.7:c.1194del | ENSP00000303500.2:p.Ala399ProfsTer? | |
| ENST00000551114.2:n.871del | ||
| ENST00000553106.5:c.1209del | ENSP00000448059.1:p.Ala404ProfsTer? | |
| ENST00000635477.1:c.313del | ||
| ENST00000635528.1:n.724del | ||
| NM_000277.1:c.1209del | NP_000268.1:p.Ala404ProfsTer? | |
| XM_011538422.1:c.1152del | XP_011536724.1:p.Ala385ProfsTer? | |
| NM_000277.2:c.1209del | NP_000268.1:p.Ala404ProfsTer? | |
| NM_001354304.1:c.1209del | NP_001341233.1:p.Ala404ProfsTer? | |
| NM_000277.3:c.1209del MANE Select | NP_000268.1:p.Ala404ProfsTer? | |
| NM_001354304.2:c.1209del | NP_001341233.1:p.Ala404ProfsTer? |