Linked Data
dbSNP Id:
rs2099304224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085547_186085551dup , CM000666.2:g.186085547_186085551dup | GRCh38 |
| NC_000004.11:g.187006701_187006705dup , CM000666.1:g.187006701_187006705dup | GRCh37 |
| NC_000004.10:g.187243695_187243699dup | NCBI36 |
| NG_007278.1:g.21393_21397dup , LRG_117:g.21393_21397dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2941_*2945dup | ENSP00000513675.1:n.*2941_*2945dup | |
| ENST00000698353.1:n.3264_3268dup | ||
| ENST00000698354.1:c.*674_*678dup | ENSP00000513676.1:n.*674_*678dup | |
| ENST00000296795.8:c.*674_*678dup MANE Select | ENSP00000296795.3:n.*674_*678dup | |
| ENST00000296795.7:c.*674_*678dup | ENSP00000296795.2:n.*674_*678dup | |
| NM_003265.3:c.*674_*678dup MANE Select | NP_003256.1:n.*674_*678dup |