Linked Data
dbSNP Id:
rs1555132466
gnomAD v2:
12-6979181-AAGGTCTTACTTAGGCCAGCTTCTTGTTCT-A
gnomAD v4:
12-6870017-AAGGTCTTACTTAGGCCAGCTTCTTGTTCT-A
MyVariant Identifiers:
chr12:g.6979182_6979210del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870021_6870049del , CM000674.2:g.6870021_6870049del | GRCh38 |
| NC_000012.11:g.6979185_6979213del , CM000674.1:g.6979185_6979213del | GRCh37 |
| NC_000012.10:g.6849446_6849474del | NCBI36 |
| NG_011948.1:g.7602_7630del | |
| NG_013308.1:g.8312_8340del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.544-28_544del | ||
| ENST00000229270.8:c.655-28_655del | ||
| ENST00000396705.9:c.544-28_544del | ||
| ENST00000474253.1:n.5_33del | ||
| ENST00000482209.1:n.227-15_240del | ||
| ENST00000488464.6:c.298-28_298del | ||
| ENST00000493987.5:c.298-28_298del | ||
| ENST00000535434.5:c.298-28_298del | ||
| ENST00000613953.4:c.655-28_655del | ||
| NM_000365.5:c.544-28_544del | ||
| NM_001159287.1:c.655-28_655del | ||
| NM_001258026.1:c.298-28_298del | ||
| XR_002957378.1:n.1524_1552del | ||
| NM_000365.6:c.544-28_544del | ||
| NM_001258026.2:c.298-28_298del |