Linked Data
dbSNP Id:
rs5800535
MyVariant Identifiers:
chr12:g.103246852_103246853insA (hg19)
chr12:g.102853074_102853075insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102853075dup , CM000674.2:g.102853075dup | GRCh38 |
| NC_000012.11:g.103246853dup , CM000674.1:g.103246853dup | GRCh37 |
| NC_000012.10:g.101770983dup | NCBI36 |
| NG_008690.1:g.69528dup | |
| NG_008690.2:g.110336dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.707-125dup MANE Select | ENSP00000448059.1:n.707-125dup | |
| ENST00000307000.7:c.692-125dup | ENSP00000303500.2:n.692-125dup | |
| ENST00000549247.6:n.341dup | ||
| ENST00000553106.5:c.707-125dup | ENSP00000448059.1:n.707-125dup | |
| NM_000277.1:c.707-125dup | NP_000268.1:n.707-125dup | |
| XM_011538422.1:c.707-125dup | XP_011536724.1:n.707-125dup | |
| NM_000277.2:c.707-125dup | NP_000268.1:n.707-125dup | |
| NM_001354304.1:c.707-125dup | NP_001341233.1:n.707-125dup | |
| NM_000277.3:c.707-125dup MANE Select | NP_000268.1:n.707-125dup | |
| NM_001354304.2:c.707-125dup | NP_001341233.1:n.707-125dup |