Linked Data
ClinVar Variation Id:
551114
ClinVar RCV Id:
RCV000666086
dbSNP Id:
rs1555136828
gnomAD v4:
11-64759823-TCACGTTCTC-T
MyVariant Identifiers:
chr11:g.64759824_64759832del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759828_64759836del , CM000673.2:g.64759828_64759836del | GRCh38 |
| NC_000011.9:g.64527300_64527308del , CM000673.1:g.64527300_64527308del | GRCh37 |
| NC_000011.8:g.64283876_64283884del | NCBI36 |
| NG_013018.1:g.5884_5892del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.67_75del MANE Select | ENSP00000164139.3:p.Glu23_Val25del | |
| ENST00000164139.3:c.67_75del | ENSP00000164139.3:p.Glu23_Val25del | |
| ENST00000377432.7:c.67_75del | ENSP00000366650.3:p.Glu23_Val25del | |
| NM_001164716.1:c.67_75del | NP_001158188.1:p.Glu23_Val25del | |
| NM_005609.2:c.67_75del | NP_005600.1:p.Glu23_Val25del | |
| NM_005609.3:c.67_75del | NP_005600.1:p.Glu23_Val25del | |
| NM_005609.4:c.67_75del MANE Select | NP_005600.1:p.Glu23_Val25del |