Linked Data
gnomAD v4:
12-102852806-A-AGTACTCAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852808_102852815dup , CM000674.2:g.102852808_102852815dup | GRCh38 |
| NC_000012.11:g.103246586_103246593dup , CM000674.1:g.103246586_103246593dup | GRCh37 |
| NC_000012.10:g.101770716_101770723dup | NCBI36 |
| NG_008690.1:g.69789_69796dup | |
| NG_008690.2:g.110597_110604dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.842+1_842+8dup | ||
| ENST00000307000.7:c.827+1_827+8dup | ||
| ENST00000549247.6:n.601+1_601+8dup | ||
| ENST00000553106.5:c.842+1_842+8dup | ||
| ENST00000635477.1:c.3+1_3+8dup | ||
| NM_000277.1:c.842+1_842+8dup | ||
| XM_011538422.1:c.842+1_842+8dup | ||
| NM_000277.2:c.842+1_842+8dup | ||
| NM_001354304.1:c.842+1_842+8dup | ||
| NM_000277.3:c.842+1_842+8dup | ||
| NM_001354304.2:c.842+1_842+8dup |