Linked Data
dbSNP Id:
rs1326702704
gnomAD v3:
11-64753253-C-CCCCT
gnomAD v4:
11-64753253-C-CCCCT
MyVariant Identifiers:
chr11:g.64520725_64520726insCCCT (hg19)
chr11:g.64753253_64753254insCCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753254_64753257dup , CM000673.2:g.64753254_64753257dup | GRCh38 |
| NC_000011.9:g.64520726_64520729dup , CM000673.1:g.64520726_64520729dup | GRCh37 |
| NC_000011.8:g.64277302_64277305dup | NCBI36 |
| NG_013018.1:g.12459_12462dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1404-70_1404-67dup MANE Select | ENSP00000164139.3:n.1404-70_1404-67dup | |
| ENST00000164139.3:c.1404-70_1404-67dup | ENSP00000164139.3:n.1404-70_1404-67dup | |
| ENST00000377432.7:c.1140-70_1140-67dup | ENSP00000366650.3:n.1140-70_1140-67dup | |
| NM_001164716.1:c.1140-70_1140-67dup | NP_001158188.1:n.1140-70_1140-67dup | |
| NM_005609.2:c.1404-70_1404-67dup | NP_005600.1:n.1404-70_1404-67dup | |
| NM_005609.3:c.1404-70_1404-67dup | NP_005600.1:n.1404-70_1404-67dup | |
| NM_005609.4:c.1404-70_1404-67dup MANE Select | NP_005600.1:n.1404-70_1404-67dup |