Linked Data
dbSNP Id:
rs752295103
MyVariant Identifiers:
chr11:g.113310352_113310353insGGAG (hg19)
chr11:g.113439630_113439631insGGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113439631_113439634dup , CM000673.2:g.113439631_113439634dup | GRCh38 |
| NC_000011.9:g.113310353_113310356dup , CM000673.1:g.113310353_113310356dup | GRCh37 |
| NC_000011.8:g.112815563_112815566dup | NCBI36 |
| NG_008841.1:g.40646_40649dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-31-14952_-31-14949dup MANE Select | ENSP00000354859.3:n.-31-14952_-31-14949dup | |
| ENST00000346454.7:c.-31-14952_-31-14949dup | ENSP00000278597.5:n.-31-14952_-31-14949dup | |
| ENST00000362072.7:c.-31-14952_-31-14949dup | ENSP00000354859.3:n.-31-14952_-31-14949dup | |
| ENST00000540600.5:n.35-14952_35-14949dup | ||
| ENST00000542616.1:c.-31-14952_-31-14949dup | ENSP00000441474.1:n.-31-14952_-31-14949dup | |
| ENST00000543292.1:c.-32+7937_-32+7940dup | ENSP00000438419.1:n.-32+7937_-32+7940dup | |
| NM_000795.3:c.-31-14952_-31-14949dup | NP_000786.1:n.-31-14952_-31-14949dup | |
| NM_016574.3:c.-31-14952_-31-14949dup | NP_057658.2:n.-31-14952_-31-14949dup | |
| XM_017017296.2:c.-31-14952_-31-14949dup | XP_016872785.1:n.-31-14952_-31-14949dup | |
| NM_000795.4:c.-31-14952_-31-14949dup MANE Select | NP_000786.1:n.-31-14952_-31-14949dup | |
| NM_016574.4:c.-31-14952_-31-14949dup | NP_057658.2:n.-31-14952_-31-14949dup |