Linked Data
dbSNP Id:
rs1555579015
gnomAD v2:
17-61909684-T-C
gnomAD v3:
17-63832324-T-C
gnomAD v4:
17-63832324-T-C
MyVariant Identifiers:
chr17:g.61909684_61909687delinsCGGC (hg19)
chr17:g.63832324_63832327delinsCGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63832324T>C , CM000679.2:g.63832324T>C | GRCh38 |
| NC_000017.10:g.61909684T>C , CM000679.1:g.61909684T>C | GRCh37 |
| NC_000017.9:g.59263416T>C | NCBI36 |
| NG_053004.1:g.15668A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584483.6:n.2489A>G | ||
| ENST00000697953.1:n.3062A>G | ||
| ENST00000698013.1:n.3174A>G | ||
| ENST00000698014.1:n.3397A>G | ||
| ENST00000698015.1:n.2490A>G | ||
| ENST00000698016.1:c.*614A>G | ENSP00000513502.1:n.*614A>G | |
| ENST00000698017.1:n.2564A>G | ||
| ENST00000698018.1:n.2695A>G | ||
| ENST00000698019.1:n.2893A>G | ||
| ENST00000698020.1:n.1999A>G | ||
| ENST00000698021.1:c.1908A>G | ||
| ENST00000698022.1:c.*614A>G | ENSP00000513504.1:n.*614A>G | |
| ENST00000698023.1:n.2593A>G | ||
| ENST00000698024.1:n.2455A>G | ||
| ENST00000698025.1:n.2615A>G | ||
| ENST00000698026.1:n.1506A>G | ||
| ENST00000698027.1:c.*831A>G | ENSP00000513505.1:n.*831A>G | |
| ENST00000698028.1:n.2698A>G | ||
| ENST00000698029.1:n.3427A>G | ||
| ENST00000448276.7:c.*614A>G MANE Select | ENSP00000392617.2:n.*614A>G | |
| ENST00000448276.6:c.*614A>G | ENSP00000392617.2:n.*614A>G | |
| ENST00000613943.4:c.2099A>G | ENSP00000483605.1:n.2099A>G | |
| NM_001098426.1:c.*614A>G | NP_001091896.1:n.*614A>G | |
| XM_005257604.2:c.*614A>G | XP_005257661.2:n.*614A>G | |
| NM_001330439.1:c.*614A>G | NP_001317368.1:n.*614A>G | |
| NM_001330440.1:c.*614A>G | NP_001317369.1:n.*614A>G | |
| NM_001098426.2:c.*614A>G MANE Select | NP_001091896.1:n.*614A>G | |
| NM_001330440.2:c.*614A>G | NP_001317369.1:n.*614A>G |