Linked Data
ClinVar Variation Id:
16708
ClinVar RCV Id:
RCV000018188
dbSNP Id:
rs760199250
gnomAD v2:
11-64572271-GCGCACCTTCTGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64804807_64804818del , CM000673.2:g.64804807_64804818del | GRCh38 |
| NC_000011.9:g.64572279_64572290del , CM000673.1:g.64572279_64572290del | GRCh37 |
| NC_000011.8:g.64328855_64328866del | NCBI36 |
| NG_008929.1:g.11484_11495del , LRG_509:g.11484_11495del | |
| NG_033040.1:g.3431_3442del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377313.7:c.1371_1382del | ||
| ENST00000394374.8:c.*664_*675del | ||
| ENST00000394376.7:c.1351-4_1358del | ||
| ENST00000413626.2:c.1356_1367del | ||
| ENST00000424912.2:c.1356_1367del | ||
| ENST00000429702.6:c.1356_1367del | ||
| ENST00000672079.2:c.*452_*463del | ||
| ENST00000710881.1:c.1371_1382del | ||
| ENST00000394374.7:c.1103_1114del | ||
| ENST00000394376.6:c.702-4_709del | ||
| ENST00000478548.3:n.1849_1860del | ||
| ENST00000671939.2:n.1318_1329del | ||
| ENST00000671965.2:n.1738_1749del | ||
| ENST00000312049.11:c.1356_1367del | ||
| ENST00000315422.9:c.1356_1367del | ||
| ENST00000377313.6:c.1371_1382del | ||
| ENST00000440873.6:c.1356_1367del | ||
| ENST00000450708.7:c.1356_1367del | ||
| ENST00000478548.2:n.1857_1868del | ||
| ENST00000671939.1:n.1633_1644del | ||
| ENST00000672079.1:c.1231_1242del | ||
| ENST00000672304.1:c.1482_1493del | ||
| ENST00000312049.10:c.1356_1367del | ||
| ENST00000315422.8:c.1356_1367del | ||
| ENST00000337652.5:c.1371_1382del | ||
| ENST00000377313.5:c.1371_1382del | ||
| ENST00000377316.6:c.1191_1202del | ||
| ENST00000377321.5:c.1251_1262del | ||
| ENST00000377326.7:c.1356_1367del | ||
| ENST00000394374.6:c.1371_1382del | ||
| ENST00000394376.5:c.1371_1382del | ||
| ENST00000478548.1:n.905_916del | ||
| NM_000244.3:c.1371_1382del , LRG_509t1:c.1371_1382del | ||
| NM_130799.2:c.1356_1367del , LRG_509t2:c.1356_1367del | ||
| NM_130800.2:c.1371_1382del | ||
| NM_130801.2:c.1371_1382del | ||
| NM_130802.2:c.1371_1382del | ||
| NM_130803.2:c.1371_1382del | ||
| NM_130804.2:c.1371_1382del | ||
| XM_005274001.3:c.1356_1367del | ||
| XM_011545040.1:c.1482_1493del | ||
| XM_011545041.1:c.1482_1493del | ||
| XM_011545042.1:c.1482_1493del | ||
| XM_005274001.4:c.1356_1367del | ||
| XM_011545041.2:c.1482_1493del | ||
| XM_011545042.3:c.1482_1493del | ||
| XM_017017765.1:c.1497_1508del | ||
| XM_017017766.1:c.1497_1508del | ||
| XM_017017767.2:c.1497_1508del | ||
| XM_017017768.1:c.1497_1508del | ||
| XM_017017769.1:c.1356_1367del | ||
| XM_017017770.2:c.1356_1367del | ||
| NM_001370251.1:c.1482_1493del | ||
| NM_001370259.2:c.1356_1367del | ||
| NM_001370260.1:c.1356_1367del | ||
| NM_001370261.1:c.1356_1367del | ||
| NM_001370262.1:c.1251_1262del | ||
| NM_001370263.1:c.1251_1262del | ||
| NM_000244.4:c.1371_1382del | ||
| NM_001370251.2:c.1482_1493del | ||
| NM_001370260.2:c.1356_1367del | ||
| NM_001370261.2:c.1356_1367del | ||
| NM_001370262.2:c.1251_1262del | ||
| NM_001370263.2:c.1251_1262del | ||
| NM_130799.3:c.1356_1367del | ||
| NM_130800.3:c.1371_1382del | ||
| NM_130801.3:c.1371_1382del | ||
| NM_130802.3:c.1371_1382del | ||
| NM_130803.3:c.1371_1382del | ||
| NM_130804.3:c.1371_1382del |