Linked Data
ClinVar Variation Id:
619670
ClinVar RCV Id:
RCV000759022
dbSNP Id:
rs1567471351
COSMIC:
COSM19504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738299_68738413del , CM000678.2:g.68738299_68738413del | GRCh38 |
| NC_000016.9:g.68772202_68772316del , CM000678.1:g.68772202_68772316del | GRCh37 |
| NC_000016.8:g.67329703_67329817del | NCBI36 |
| NG_008021.1:g.6008_6122del , LRG_301:g.6008_6122del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.51_163+2del | ||
| ENST00000261769.9:c.51_163+2del | ||
| ENST00000422392.6:c.51_163+2del | ||
| ENST00000566510.5:c.51_163+2del | ||
| ENST00000566612.5:c.51_163+2del | ||
| ENST00000611625.4:c.51_163+2del | ||
| ENST00000612417.4:c.51_163+2del | ||
| ENST00000621016.4:c.51_163+2del | ||
| NM_004360.3:c.51_163+2del , LRG_301t1:c.51_163+2del | ||
| NM_001317184.1:c.51_163+2del | ||
| NM_001317185.1:c.-1565_-1453+2del | ||
| NM_001317186.1:c.-1769_-1657+2del | ||
| NM_004360.4:c.51_163+2del | ||
| NM_004360.5:c.51_163+2del | ||
| NM_001317184.2:c.51_163+2del | ||
| NM_001317185.2:c.-1565_-1453+2del | ||
| NM_001317186.2:c.-1769_-1657+2del |