Linked Data
ClinVar Variation Id:
2022257
ClinVar RCV Id:
RCV002847636
dbSNP Id:
rs745711596
ExAC:
9:6558545 GAGA / G
gnomAD v2:
9-6558545-GAGA-G
gnomAD v3:
9-6558545-GAGA-G
gnomAD v4:
9-6558545-GAGA-G
MyVariant Identifiers:
chr9:g.6558546_6558548del (hg19)
chr9:g.6558547_6558549del (hg38)
chr9:g.6558546_6558548del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558549_6558551del , CM000671.2:g.6558549_6558551del | GRCh38 |
| NC_000009.11:g.6558549_6558551del , CM000671.1:g.6558549_6558551del | GRCh37 |
| NC_000009.10:g.6548549_6548551del | NCBI36 |
| NG_016397.1:g.92145_92147del , LRG_643:g.92145_92147del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2052+11_2052+13del MANE Select | ENSP00000370737.4:n.2052+11_2052+13del | |
| ENST00000460457.2:n.212+11_212+13del | ||
| ENST00000638233.1:n.487+11_487+13del | ||
| ENST00000638661.1:c.252+11_252+13del | ENSP00000491369.1:n.252+11_252+13del | |
| ENST00000638694.1:n.239+11_239+13del | ||
| ENST00000639318.1:c.252+11_252+13del | ENSP00000491932.1:n.252+11_252+13del | |
| ENST00000639364.1:n.1752+11_1752+13del | ||
| ENST00000639443.1:n.1620+11_1620+13del | ||
| ENST00000639954.1:n.1760+11_1760+13del | ||
| ENST00000640208.1:c.263_265del | ENSP00000491895.1:p.Phe88del | |
| ENST00000640505.1:n.291+11_291+13del | ||
| ENST00000640592.1:n.1946_1948del | ||
| ENST00000321612.6:c.2052+11_2052+13del | ENSP00000370737.3:n.2052+11_2052+13del | |
| ENST00000460457.1:n.202_204del | ||
| NM_000170.2:c.2052+11_2052+13del , LRG_643t1:c.2052+11_2052+13del | NP_000161.2:n.2052+11_2052+13del | |
| NM_000170.3:c.2052+11_2052+13del MANE Select | NP_000161.2:n.2052+11_2052+13del |