Linked Data
ClinVar Variation Id:
183727
dbSNP Id:
rs786201045
COSMIC:
COSM19541
PubMed:
PMID:26025002
ERepo:
CA186248/MONDO:0007648/007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68812135_68812136del , CM000678.2:g.68812135_68812136del | GRCh38 |
| NC_000016.9:g.68846038_68846039del , CM000678.1:g.68846038_68846039del | GRCh37 |
| NC_000016.8:g.67403539_67403540del | NCBI36 |
| NG_008021.1:g.79844_79845del , LRG_301:g.79844_79845del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1009_1010del | ||
| ENST00000261769.9:c.1009_1010del | ||
| ENST00000422392.6:c.1009_1010del | ||
| ENST00000561751.1:c.631_632del | ||
| ENST00000562836.5:n.1080_1081del | ||
| ENST00000565810.1:n.53_54del | ||
| ENST00000566510.5:c.853_854del | ||
| ENST00000566612.5:c.1009_1010del | ||
| ENST00000611625.4:c.1009_1010del | ||
| ENST00000612417.4:c.1009_1010del | ||
| ENST00000621016.4:c.1009_1010del | ||
| NM_004360.3:c.1009_1010del , LRG_301t1:c.1009_1010del | ||
| XM_011523488.1:c.274_275del | ||
| XM_011523489.1:c.274_275del | ||
| NM_001317184.1:c.1009_1010del | ||
| NM_001317185.1:c.-607_-606del | ||
| NM_001317186.1:c.-811_-810del | ||
| NM_004360.4:c.1009_1010del | ||
| NM_004360.5:c.1009_1010del | ||
| NM_001317184.2:c.1009_1010del | ||
| NM_001317185.2:c.-607_-606del | ||
| NM_001317186.2:c.-811_-810del |