Linked Data
ClinVar Variation Id:
140616
ClinVar RCV Id:
RCV000128832
dbSNP Id:
rs1599810980
PubMed:
PMID:24706940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106234_1106238del , CM000681.2:g.1106234_1106238del | GRCh38 |
| NC_000019.9:g.1106233_1106237del , CM000681.1:g.1106233_1106237del | GRCh37 |
| NC_000019.8:g.1057233_1057237del | NCBI36 |
| NG_050621.1:g.7309_7313del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.588-8_588-4del | ENSP00000473614.3:n.588-8_588-4del | |
| ENST00000593032.6:c.449_453del | ENSP00000465828.4:p.Leu150ProfsTer20 | |
| ENST00000706713.1:c.471-8_471-4del | ENSP00000516510.1:n.471-8_471-4del | |
| ENST00000706714.1:c.449_453del | ENSP00000516511.1:p.Leu150ProfsTer20 | |
| ENST00000706715.1:c.93-8_93-4del | ENSP00000516512.1:n.93-8_93-4del | |
| ENST00000354171.13:c.477-8_477-4del MANE Select | ENSP00000346103.7:n.477-8_477-4del | |
| ENST00000589115.6:c.477-166_477-162del | ENSP00000466872.3:n.477-166_477-162del | |
| ENST00000354171.12:c.477-8_477-4del | ENSP00000346103.7:n.477-8_477-4del | |
| ENST00000585480.1:c.210-8_210-4del | ENSP00000467900.1:n.210-8_210-4del | |
| ENST00000587648.5:c.357-8_357-4del | ENSP00000468349.1:n.357-8_357-4del | |
| ENST00000588919.5:c.396-8_396-4del | ENSP00000464989.3:n.396-8_396-4del | |
| ENST00000589115.5:c.477-166_477-162del | ENSP00000466872.2:n.477-166_477-162del | |
| ENST00000592940.2:n.840_844del | ||
| ENST00000593032.5:c.449_453del | ENSP00000465828.3:p.Leu150ProfsTer20 | |
| ENST00000611653.4:c.396-8_396-4del | ENSP00000483655.1:n.396-8_396-4del | |
| ENST00000616066.4:c.474-8_474-4del | ENSP00000485000.1:n.474-8_474-4del | |
| ENST00000622390.4:c.585-8_585-4del | ENSP00000477503.1:n.585-8_585-4del | |
| NM_001039847.2:c.477-8_477-4del | NP_001034936.1:n.477-8_477-4del | |
| NM_001039848.2:c.588-8_588-4del | NP_001034937.1:n.588-8_588-4del | |
| NM_002085.4:c.477-8_477-4del | NP_002076.2:n.477-8_477-4del | |
| NM_001039848.3:c.588-8_588-4del | NP_001034937.1:n.588-8_588-4del | |
| NM_001039847.3:c.477-8_477-4del | NP_001034936.1:n.477-8_477-4del | |
| NM_001039848.4:c.588-8_588-4del | NP_001034937.1:n.588-8_588-4del | |
| NM_001367832.1:c.396-8_396-4del | NP_001354761.1:n.396-8_396-4del | |
| NM_002085.5:c.477-8_477-4del MANE Select | NP_002076.2:n.477-8_477-4del |