Linked Data
dbSNP Id:
rs1476694401
gnomAD v3:
12-6869948-TCTGA-T
gnomAD v4:
12-6869948-TCTGA-T
MyVariant Identifiers:
chr12:g.6869949_6869952del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6869951_6869954del , CM000674.2:g.6869951_6869954del | GRCh38 |
| NC_000012.11:g.6979115_6979118del , CM000674.1:g.6979115_6979118del | GRCh37 |
| NC_000012.10:g.6849376_6849379del | NCBI36 |
| NG_011948.1:g.7532_7535del | |
| NG_013308.1:g.8406_8409del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.544-98_544-95del MANE Select | ENSP00000379933.4:n.544-98_544-95del | |
| ENST00000229270.8:c.655-98_655-95del | ENSP00000229270.4:n.655-98_655-95del | |
| ENST00000396705.9:c.544-98_544-95del | ENSP00000379933.4:n.544-98_544-95del | |
| ENST00000482209.1:n.227-85_227-82del | ||
| ENST00000488464.6:c.298-98_298-95del | ENSP00000475620.1:n.298-98_298-95del | |
| ENST00000493987.5:c.298-98_298-95del | ENSP00000475364.1:n.298-98_298-95del | |
| ENST00000535434.5:c.298-98_298-95del | ENSP00000443599.1:n.298-98_298-95del | |
| ENST00000613953.4:c.655-98_655-95del | ENSP00000484435.1:n.655-98_655-95del | |
| NM_000365.5:c.544-98_544-95del | NP_000356.1:n.544-98_544-95del | |
| NM_001159287.1:c.655-98_655-95del | NP_001152759.1:n.655-98_655-95del | |
| NM_001258026.1:c.298-98_298-95del | NP_001244955.1:n.298-98_298-95del | |
| XR_002957378.1:n.1454_1457del | ||
| NM_000365.6:c.544-98_544-95del MANE Select | NP_000356.1:n.544-98_544-95del | |
| NM_001258026.2:c.298-98_298-95del | NP_001244955.1:n.298-98_298-95del |