Linked Data
ClinVar Variation Id:
553668
ClinVar RCV Id:
RCV000669171
dbSNP Id:
rs1555603216
MyVariant Identifiers:
chr17:g.80118652_80118654del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80118652_80118654del , CM000679.2:g.80118652_80118654del | GRCh38 |
| NC_000017.10:g.78092451_78092453del , CM000679.1:g.78092451_78092453del | GRCh37 |
| NC_000017.9:g.75707046_75707048del | NCBI36 |
| NG_009822.1:g.22097_22099del , LRG_673:g.22097_22099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2647-1_2648del | ||
| ENST00000572080.2:c.*785-1_*786del | ||
| ENST00000577106.6:c.2647-1_2648del | ||
| ENST00000302262.8:c.2647-1_2648del | ||
| ENST00000302262.7:c.2647-1_2648del | ||
| ENST00000390015.7:c.2647-1_2648del | ||
| ENST00000573556.1:n.600-1_601del | ||
| NM_000152.3:c.2647-1_2648del , LRG_673t1:c.2647-1_2648del | ||
| NM_001079803.1:c.2647-1_2648del | ||
| NM_001079804.1:c.2647-1_2648del | ||
| XM_005257193.1:c.2647-1_2648del | ||
| XM_005257194.3:c.2647-1_2648del | ||
| NM_000152.4:c.2647-1_2648del | ||
| NM_001079803.2:c.2647-1_2648del | ||
| NM_001079804.2:c.2647-1_2648del | ||
| XM_005257193.2:c.2647-1_2648del | ||
| XM_005257194.4:c.2647-1_2648del | ||
| NM_000152.5:c.2647-1_2648del | ||
| NM_001079803.3:c.2647-1_2648del | ||
| NM_001079804.3:c.2647-1_2648del |