Linked Data
ClinVar Variation Id:
2875874
ClinVar RCV Id:
RCV003707484
dbSNP Id:
rs1562802414
gnomAD v2:
7-82453534-T-G
MyVariant Identifiers:
chr7:g.82453534_82453538delinsGAAAA (hg19)
chr7:g.82824218_82824222delinsGAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.82824218T>G , CM000669.2:g.82824218T>G | GRCh38 |
| NC_000007.13:g.82453534T>G , CM000669.1:g.82453534T>G | GRCh37 |
| NC_000007.12:g.82291470T>G | NCBI36 |
| NG_047145.1:g.343664A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333891.14:c.14596+18A>C MANE Select | ENSP00000334319.8:n.14596+18A>C | |
| ENST00000333891.13:c.14596+18A>C | ENSP00000334319.8:n.14596+18A>C | |
| ENST00000423517.6:c.14596+18A>C | ENSP00000388393.2:n.14596+18A>C | |
| ENST00000426442.6:n.1091+18A>C | ||
| ENST00000618073.1:c.859+18A>C | ENSP00000482390.1:n.859+18A>C | |
| NM_014510.2:c.14596+18A>C | NP_055325.2:n.14596+18A>C | |
| NM_033026.5:c.14596+18A>C | NP_149015.2:n.14596+18A>C | |
| XM_017012006.2:c.7501+18A>C | XP_016867495.1:n.7501+18A>C | |
| XM_017012007.1:c.7474+18A>C | XP_016867496.1:n.7474+18A>C | |
| XR_001744643.2:n.16165+18A>C | ||
| NM_033026.6:c.14596+18A>C MANE Select | NP_149015.2:n.14596+18A>C | |
| NM_014510.3:c.14596+18A>C | NP_055325.2:n.14596+18A>C |