Linked Data
ClinVar Variation Id:
340843
ClinVar RCV Id:
RCV000321150
dbSNP Id:
rs1555915252
MyVariant Identifiers:
chr22:g.21242596_21242607delinsT (hg19)
chr22:g.20888308_20888319delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888308_20888319delinsT , CM000684.2:g.20888308_20888319delinsT | GRCh38 |
| NC_000022.10:g.21242596_21242607delinsT , CM000684.1:g.21242596_21242607delinsT | GRCh37 |
| NC_000022.9:g.19572596_19572607delinsT | NCBI36 |
| NG_012152.1:g.34305_34316delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*472_*483delinsT MANE Select | ENSP00000215730.6:n.*472_*483delinsT | |
| ENST00000215730.11:c.*472_*483delinsT | ENSP00000215730.6:n.*472_*483delinsT | |
| NM_004782.3:c.*472_*483delinsT | NP_004773.1:n.*472_*483delinsT | |
| NM_004782.4:c.*472_*483delinsT MANE Select | NP_004773.1:n.*472_*483delinsT |