Linked Data
ClinVar Variation Id:
404591
ClinVar RCV Id:
RCV000472465
dbSNP Id:
rs1057519370
MyVariant Identifiers:
chr17:g.29486112del (hg19)
chr17:g.29486109del (hg19)
chr17:g.31159094del (hg38)
chr17:g.31159091del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31159094del , CM000679.2:g.31159094del | GRCh38 |
| NC_000017.10:g.29486112del , CM000679.1:g.29486112del | GRCh37 |
| NC_000017.9:g.26510238del | NCBI36 |
| NG_009018.1:g.69118del , LRG_214:g.69118del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.288+1del | ||
| ENST00000691014.1:c.288+1del | ||
| ENST00000358273.9:c.288+1del | ||
| ENST00000490416.2:c.-26+1del | ||
| ENST00000356175.7:c.288+1del | ||
| ENST00000358273.8:c.288+1del | ||
| ENST00000431387.8:c.288+1del | ||
| ENST00000487476.5:n.671+1del | ||
| ENST00000489712.6:c.87+1del | ||
| ENST00000490416.1:n.29+1del | ||
| ENST00000495910.6:c.170+1del | ||
| ENST00000579081.5:c.390+1del | ||
| NM_000267.3:c.288+1del , LRG_214t1:c.288+1del | ||
| NM_001042492.2:c.288+1del , LRG_214t2:c.288+1del | ||
| NM_001128147.2:c.288+1del | ||
| XM_005257983.1:c.288+1del | ||
| XM_005257984.1:c.288+1del | ||
| XM_006721922.1:c.288+1del | ||
| XM_006721923.2:c.249+1del | ||
| XM_006721924.1:c.288+1del | ||
| XM_006721925.1:c.288+1del | ||
| XM_006721926.2:c.288+1del | ||
| XM_006721927.1:c.288+1del | ||
| XM_006721928.2:c.288+1del | ||
| XM_011524852.1:c.288+1del | ||
| XM_011524853.1:c.249+1del | ||
| XM_011524854.1:c.249+1del | ||
| XM_011524855.1:c.249+1del | ||
| XM_011524856.1:c.249+1del | ||
| XM_011524857.1:c.288+1del | ||
| NM_001042492.3:c.288+1del | ||
| NM_001128147.3:c.288+1del |