Linked Data
ClinVar Variation Id:
554047
ClinVar RCV Id:
RCV000669604
dbSNP Id:
rs1555136752
MyVariant Identifiers:
chr11:g.64759679_64759680del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759679_64759680del , CM000673.2:g.64759679_64759680del | GRCh38 |
| NC_000011.9:g.64527151_64527152del , CM000673.1:g.64527151_64527152del | GRCh37 |
| NC_000011.8:g.64283727_64283728del | NCBI36 |
| NG_013018.1:g.6036_6037del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.219_220del MANE Select | ENSP00000164139.3:p.His74LeufsTer3 | |
| ENST00000164139.3:c.219_220del | ENSP00000164139.3:p.His74LeufsTer3 | |
| ENST00000377432.7:c.219_220del | ENSP00000366650.3:p.His74LeufsTer3 | |
| NM_001164716.1:c.219_220del | NP_001158188.1:p.His74LeufsTer3 | |
| NM_005609.2:c.219_220del | NP_005600.1:p.His74LeufsTer3 | |
| NM_005609.3:c.219_220del | NP_005600.1:p.His74LeufsTer3 | |
| NM_005609.4:c.219_220del MANE Select | NP_005600.1:p.His74LeufsTer3 |