Linked Data
ClinVar Variation Id:
1673233
ClinVar RCV Id:
RCV002213687
dbSNP Id:
rs752998091
ExAC:
7:82453534 TA / T
gnomAD v2:
7-82453534-TA-T
gnomAD v3:
7-82824218-TA-T
gnomAD v4:
7-82824218-TA-T
MyVariant Identifiers:
chr7:g.82453538del (hg19)
chr7:g.82453535del (hg19)
chr7:g.82824222del (hg38)
chr7:g.82824219del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.82824225del , CM000669.2:g.82824225del | GRCh38 |
| NC_000007.13:g.82453541del , CM000669.1:g.82453541del | GRCh37 |
| NC_000007.12:g.82291477del | NCBI36 |
| NG_047145.1:g.343663del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333891.14:c.14596+17del MANE Select | ENSP00000334319.8:n.14596+17del | |
| ENST00000333891.13:c.14596+17del | ENSP00000334319.8:n.14596+17del | |
| ENST00000423517.6:c.14596+17del | ENSP00000388393.2:n.14596+17del | |
| ENST00000426442.6:n.1091+17del | ||
| ENST00000618073.1:c.859+17del | ENSP00000482390.1:n.859+17del | |
| NM_014510.2:c.14596+17del | NP_055325.2:n.14596+17del | |
| NM_033026.5:c.14596+17del | NP_149015.2:n.14596+17del | |
| XM_017012006.2:c.7501+17del | XP_016867495.1:n.7501+17del | |
| XM_017012007.1:c.7474+17del | XP_016867496.1:n.7474+17del | |
| XR_001744643.2:n.16165+17del | ||
| NM_033026.6:c.14596+17del MANE Select | NP_149015.2:n.14596+17del | |
| NM_014510.3:c.14596+17del | NP_055325.2:n.14596+17del |