Linked Data
dbSNP Id:
rs1369058532
gnomAD v2:
10-50678459-A-AAAAG
MyVariant Identifiers:
chr10:g.50678459_50678460insAAAG (hg19)
chr10:g.49470413_49470414insAAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470413_49470414insAAAG , CM000672.2:g.49470413_49470414insAAAG | GRCh38 |
| NC_000010.10:g.50678459_50678460insAAAG , CM000672.1:g.50678459_50678460insAAAG | GRCh37 |
| NC_000010.9:g.50348465_50348466insAAAG | NCBI36 |
| NG_009442.1:g.73688_73689insCTTT , LRG_465:g.73688_73689insCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3546_3547insCTTT MANE Select | ENSP00000348089.5:p.Ser1183LeufsTer8 | |
| ENST00000679552.1:n.617_618insCTTT | ||
| ENST00000679871.1:n.692_693insCTTT | ||
| ENST00000679974.1:n.595_596insCTTT | ||
| ENST00000681632.1:n.4949_4950insCTTT | ||
| ENST00000681659.1:c.3387_3388insCTTT | ENSP00000505631.1:p.Ser1130LeufsTer8 | |
| ENST00000355832.9:c.3546_3547insCTTT | ENSP00000348089.5:p.Ser1183LeufsTer8 | |
| ENST00000623073.3:c.*1842_*1843insCTTT | ENSP00000485650.1:n.*1842_*1843insCTTT | |
| ENST00000623115.3:c.1656_1657insCTTT | ENSP00000485321.1:p.Ser553LeufsTer8 | |
| ENST00000624341.3:c.1378_1379insCTTT | ||
| NM_000124.3:c.3546_3547insCTTT | NP_000115.1:p.Ser1183LeufsTer8 | |
| XR_945953.1:n.243-1152_243-1151insAAAG | ||
| NM_001346440.1:c.3546_3547insCTTT | NP_001333369.1:p.Ser1183LeufsTer8 | |
| NM_000124.4:c.3546_3547insCTTT MANE Select | NP_000115.1:p.Ser1183LeufsTer8 | |
| NM_001346440.2:c.3546_3547insCTTT | NP_001333369.1:p.Ser1183LeufsTer8 |