Linked Data
dbSNP Id:
rs765089188
ExAC:
17:45360935 CG / C
gnomAD v2:
17-45360935-CG-C
gnomAD v3:
17-47283569-CG-C
gnomAD v4:
17-47283569-CG-C
MyVariant Identifiers:
chr17:g.45360936del (hg19)
chr17:g.47283571del (hg38)
chr17:g.47283570del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283573del , CM000679.2:g.47283573del | GRCh38 |
| NC_000017.10:g.45360939del , CM000679.1:g.45360939del | GRCh37 |
| NC_000017.9:g.42715938del | NCBI36 |
| NG_008332.2:g.34732del , LRG_481:g.34732del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.361+24del | ENSP00000513002.1:n.361+24del | |
| ENST00000559488.7:c.361+24del MANE Select | ENSP00000452786.2:n.361+24del | |
| ENST00000559488.5:c.361+24del | ENSP00000452786.1:n.361+24del | |
| ENST00000560629.1:c.326+24del | ||
| ENST00000571680.1:c.361+24del | ENSP00000461626.1:n.361+24del | |
| NM_000212.2:c.361+24del , LRG_481t1:c.361+24del | NP_000203.2:n.361+24del | |
| NM_000212.3:c.361+24del MANE Select | NP_000203.2:n.361+24del |