Linked Data
ClinVar Variation Id:
1618644
ClinVar RCV Id:
RCV002094055
dbSNP Id:
rs370693011
ExAC:
17:79767765 GC / G
gnomAD v2:
17-79767765-GC-G
gnomAD v3:
17-81809889-GC-G
gnomAD v4:
17-81809889-GC-G
MyVariant Identifiers:
chr17:g.79767766del (hg19)
chr17:g.81809891del (hg38)
chr17:g.81809890del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81809895del , CM000679.2:g.81809895del | GRCh38 |
| NC_000017.10:g.79767771del , CM000679.1:g.79767771del | GRCh37 |
| NG_016409.1:g.8722del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400723.8:c.163+11del MANE Select | ENSP00000383558.3:n.163+11del | |
| ENST00000400723.7:c.163+11del | ENSP00000383558.3:n.163+11del | |
| ENST00000570996.5:c.163+11del | ENSP00000460976.1:n.163+11del | |
| ENST00000572185.1:n.469del | ||
| ENST00000573428.1:c.163+11del | ENSP00000458930.1:n.163+11del | |
| ENST00000574283.2:n.108del | ||
| NM_000160.4:c.163+11del | NP_000151.1:n.163+11del | |
| XM_006722277.1:c.163+11del | XP_006722340.1:n.163+11del | |
| XM_011523539.1:c.-53del | XP_011521841.1:n.-53del | |
| XM_011523540.1:c.-343del | XP_011521842.1:n.-343del | |
| XM_017024446.1:c.157+11del | XP_016879935.1:n.157+11del | |
| XM_017024447.1:c.-343del | XP_016879936.1:n.-343del | |
| NM_000160.5:c.163+11del MANE Select | NP_000151.1:n.163+11del |