Linked Data
ClinVar Variation Id:
424864
ClinVar RCV Id:
RCV000256225
dbSNP Id:
rs1064792894
PubMed:
PMID:28905880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168518035_168518036del , CM000667.2:g.168518035_168518036del | GRCh38 |
| NC_000005.9:g.167945040_167945041del , CM000667.1:g.167945040_167945041del | GRCh37 |
| NC_000005.8:g.167877618_167877619del | NCBI36 |
| NG_041809.1:g.36578_36579del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000231572.8:c.1846_1847del MANE Select | ENSP00000231572.3:p.Tyr616LeufsTer6 | |
| ENST00000231572.7:c.1846_1847del | ENSP00000231572.3:p.Tyr616LeufsTer6 | |
| ENST00000520013.5:c.*1347_*1348del | ENSP00000429030.1:n.*1347_*1348del | |
| NM_002887.3:c.1846_1847del | NP_002878.2:p.Tyr616LeufsTer6 | |
| NM_002887.4:c.1846_1847del MANE Select | NP_002878.2:p.Tyr616LeufsTer6 |