Linked Data
dbSNP Id:
rs2089226469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115461_10115466dup , CM000681.2:g.10115461_10115466dup | GRCh38 |
| NC_000019.9:g.10226137_10226142dup , CM000681.1:g.10226137_10226142dup | GRCh37 |
| NC_000019.8:g.10087137_10087142dup | NCBI36 |
| NG_047007.1:g.8941_8946dup | |
| NG_051197.1:g.9462_9467dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947+16_947+21dup MANE Select | ENSP00000253108.3:n.947+16_947+21dup | |
| ENST00000253108.8:c.947+16_947+21dup | ENSP00000253108.3:n.947+16_947+21dup | |
| ENST00000590158.1:n.966+16_966+21dup | ||
| ENST00000593054.5:c.341+16_341+21dup | ENSP00000467187.1:n.341+16_341+21dup | |
| NM_003755.3:c.947+16_947+21dup | NP_003746.2:n.947+16_947+21dup | |
| NM_003755.4:c.947+16_947+21dup | NP_003746.2:n.947+16_947+21dup | |
| NM_003755.5:c.947+16_947+21dup MANE Select | NP_003746.2:n.947+16_947+21dup |