Linked Data
dbSNP Id:
rs1486789610
gnomAD v2:
10-115348305-T-TATC
MyVariant Identifiers:
chr10:g.115348305_115348306insATC (hg19)
chr10:g.113588546_113588547insATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588548_113588550dup , CM000672.2:g.113588548_113588550dup | GRCh38 |
| NC_000010.10:g.115348307_115348309dup , CM000672.1:g.115348307_115348309dup | GRCh37 |
| NC_000010.9:g.115338297_115338299dup | NCBI36 |
| NG_008956.1:g.40530_40532dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.*179_*181dup MANE Select | ENSP00000277903.4:n.*179_*181dup | |
| ENST00000351270.3:c.*179_*181dup | ENSP00000277903.4:n.*179_*181dup | |
| ENST00000542051.5:c.*179_*181dup | ENSP00000443283.1:n.*179_*181dup | |
| NM_001177660.1:c.*179_*181dup | NP_001171131.1:n.*179_*181dup | |
| NM_004132.3:c.*179_*181dup | NP_004123.1:n.*179_*181dup | |
| NM_001177660.2:c.*179_*181dup | NP_001171131.1:n.*179_*181dup | |
| NM_004132.4:c.*179_*181dup | NP_004123.1:n.*179_*181dup | |
| NM_004132.5:c.*179_*181dup MANE Select | NP_004123.1:n.*179_*181dup | |
| NM_001177660.3:c.*179_*181dup | NP_001171131.1:n.*179_*181dup |