Linked Data
dbSNP Id:
rs1164009598
gnomAD v3:
12-102854184-A-ACC
gnomAD v4:
12-102854184-A-ACC
MyVariant Identifiers:
chr12:g.103247962_103247963insCC (hg19)
chr12:g.102854184_102854185insCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854186_102854187dup , CM000674.2:g.102854186_102854187dup | GRCh38 |
| NC_000012.11:g.103247964_103247965dup , CM000674.1:g.103247964_103247965dup | GRCh37 |
| NC_000012.10:g.101772094_101772095dup | NCBI36 |
| NG_008690.1:g.68417_68418dup | |
| NG_008690.2:g.109225_109226dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.706+950_706+951dup MANE Select | ENSP00000448059.1:n.706+950_706+951dup | |
| ENST00000307000.7:c.691+950_691+951dup | ENSP00000303500.2:n.691+950_691+951dup | |
| ENST00000553106.5:c.706+950_706+951dup | ENSP00000448059.1:n.706+950_706+951dup | |
| NM_000277.1:c.706+950_706+951dup | NP_000268.1:n.706+950_706+951dup | |
| XM_011538422.1:c.706+950_706+951dup | XP_011536724.1:n.706+950_706+951dup | |
| NM_000277.2:c.706+950_706+951dup | NP_000268.1:n.706+950_706+951dup | |
| NM_001354304.1:c.706+950_706+951dup | NP_001341233.1:n.706+950_706+951dup | |
| XM_017019370.2:c.*599_*600dup | XP_016874859.1:n.*599_*600dup | |
| NM_000277.3:c.706+950_706+951dup MANE Select | NP_000268.1:n.706+950_706+951dup | |
| NM_001354304.2:c.706+950_706+951dup | NP_001341233.1:n.706+950_706+951dup |