Linked Data
dbSNP Id:
rs1555922355
gnomAD v2:
22-19164057-T-TCCCCCCTTCCC
gnomAD v4:
22-19176544-T-TCCCCCCTTCCC
MyVariant Identifiers:
chr22:g.19164057_19164058insCCCCCCTTCCC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176546_19176556dup , CM000684.2:g.19176546_19176556dup | GRCh38 |
| NC_000022.10:g.19164059_19164069dup , CM000684.1:g.19164059_19164069dup | GRCh37 |
| NC_000022.9:g.17544059_17544069dup | NCBI36 |
| NG_033863.1:g.7309_7319dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.747+23_747+33dup MANE Select | ENSP00000215882.5:n.747+23_747+33dup | |
| ENST00000215882.9:c.747+23_747+33dup | ENSP00000215882.5:n.747+23_747+33dup | |
| ENST00000451283.5:c.438+23_438+33dup | ENSP00000401480.1:n.438+23_438+33dup | |
| ENST00000470922.5:n.889+23_889+33dup | ||
| NM_001256534.1:c.768+23_768+33dup | NP_001243463.1:n.768+23_768+33dup | |
| NM_001287387.1:c.438+23_438+33dup | NP_001274316.1:n.438+23_438+33dup | |
| NM_005984.4:c.747+23_747+33dup | NP_005975.1:n.747+23_747+33dup | |
| NR_046298.2:n.798+23_798+33dup | ||
| NM_005984.5:c.747+23_747+33dup MANE Select | NP_005975.1:n.747+23_747+33dup | |
| NM_001256534.2:c.768+23_768+33dup | NP_001243463.1:n.768+23_768+33dup | |
| NM_001287387.2:c.438+23_438+33dup | NP_001274316.1:n.438+23_438+33dup | |
| NR_046298.3:n.671+23_671+33dup |