Linked Data
dbSNP Id:
rs1647833273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732832_115732855dup , CM000663.2:g.115732832_115732855dup | GRCh38 |
| NC_000001.10:g.116275453_116275476dup , CM000663.1:g.116275453_116275476dup | GRCh37 |
| NC_000001.9:g.116076976_116076999dup | NCBI36 |
| NG_008802.1:g.40952_40975dup , LRG_404:g.40952_40975dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.330+47_330+70dup | ENSP00000518226.1:n.330+47_330+70dup | |
| ENST00000261448.6:c.606+47_606+70dup MANE Select | ENSP00000261448.5:n.606+47_606+70dup | |
| ENST00000261448.5:c.606+47_606+70dup | ENSP00000261448.5:n.606+47_606+70dup | |
| ENST00000488931.1:n.27+47_27+70dup | ||
| NM_001232.3:c.606+47_606+70dup , LRG_404t1:c.606+47_606+70dup | NP_001223.2:n.606+47_606+70dup | |
| NM_001232.4:c.606+47_606+70dup MANE Select | NP_001223.2:n.606+47_606+70dup |