Linked Data
dbSNP Id:
rs1555922263
gnomAD v2:
22-19163907-CA-C
gnomAD v4:
22-19176394-CA-C
MyVariant Identifiers:
chr22:g.19163908del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176396del , CM000684.2:g.19176396del | GRCh38 |
| NC_000022.10:g.19163909del , CM000684.1:g.19163909del | GRCh37 |
| NC_000022.9:g.17543909del | NCBI36 |
| NG_033863.1:g.7469del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.821+26del MANE Select | ENSP00000215882.5:n.821+26del | |
| ENST00000215882.9:c.821+26del | ENSP00000215882.5:n.821+26del | |
| ENST00000451283.5:c.512+26del | ENSP00000401480.1:n.512+26del | |
| ENST00000470922.5:n.963+26del | ||
| NM_001256534.1:c.842+26del | NP_001243463.1:n.842+26del | |
| NM_001287387.1:c.512+26del | NP_001274316.1:n.512+26del | |
| NM_005984.4:c.821+26del | NP_005975.1:n.821+26del | |
| NR_046298.2:n.872+26del | ||
| NM_005984.5:c.821+26del MANE Select | NP_005975.1:n.821+26del | |
| NM_001256534.2:c.842+26del | NP_001243463.1:n.842+26del | |
| NM_001287387.2:c.512+26del | NP_001274316.1:n.512+26del | |
| NR_046298.3:n.745+26del |