Linked Data
ClinVar Variation Id:
164548
dbSNP Id:
rs727503315
ExAC:
17:18053754 GC / G
gnomAD v2:
17-18053754-GC-G
gnomAD v3:
17-18150440-GC-G
gnomAD v4:
17-18150440-GC-G
MyVariant Identifiers:
chr17:g.18053756del (hg19)
chr17:g.18053755del (hg19)
chr17:g.18150442del (hg38)
chr17:g.18150441del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18150442del , CM000679.2:g.18150442del | GRCh38 |
| NC_000017.10:g.18053756del , CM000679.1:g.18053756del | GRCh37 |
| NC_000017.9:g.17994481del | NCBI36 |
| NG_011634.1:g.46737del | |
| NG_011634.2:g.46737del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647165.2:c.7226del MANE Select | ENSP00000495481.1:p.Pro2409GlnfsTer8 | |
| ENST00000205890.9:c.7226del | ENSP00000205890.5:p.Pro2409GlnfsTer8 | |
| ENST00000615845.4:c.7226del | ENSP00000481642.1:p.Pro2409GlnfsTer8 | |
| NM_016239.3:c.7226del | NP_057323.3:p.Pro2409GlnfsTer8 | |
| XM_011523917.1:c.6901del | XP_011522219.1:p.Gln2301AsnfsTer19 | |
| XM_011523921.1:c.7220del | XP_011522223.1:p.Pro2407GlnfsTer8 | |
| XR_934037.1:n.7560del | ||
| XR_934038.1:n.7512del | ||
| XR_934293.1:n.434+1162del | ||
| XR_934294.1:n.435-668del | ||
| XR_934295.1:n.253+1162del | ||
| XM_017024714.2:c.7166del | XP_016880203.1:p.Pro2389GlnfsTer8 | |
| XM_017024715.2:c.7229del | XP_016880204.1:p.Pro2410GlnfsTer8 | |
| XR_934293.2:n.377+1162del | ||
| XR_934294.2:n.378-668del | ||
| NM_016239.4:c.7226del MANE Select | NP_057323.3:p.Pro2409GlnfsTer8 |