Linked Data
dbSNP Id:
rs1275086672
gnomAD v2:
18-48593634-G-GGAAT
gnomAD v3:
18-51067264-G-GGAAT
gnomAD v4:
18-51067264-G-GGAAT
MyVariant Identifiers:
chr18:g.48593634_48593635insGAAT (hg19)
chr18:g.51067264_51067265insGAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51067266_51067269dup , CM000680.2:g.51067266_51067269dup | GRCh38 |
| NC_000018.9:g.48593636_48593639dup , CM000680.1:g.48593636_48593639dup | GRCh37 |
| NC_000018.8:g.46847634_46847637dup | NCBI36 |
| NG_013013.2:g.104227_104230dup , LRG_318:g.104227_104230dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1308+79_1308+82dup | ENSP00000465878.2:n.1308+79_1308+82dup | |
| ENST00000589076.6:c.1308+79_1308+82dup | ENSP00000466934.2:n.1308+79_1308+82dup | |
| ENST00000589941.2:c.1308+79_1308+82dup | ENSP00000465874.2:n.1308+79_1308+82dup | |
| ENST00000590061.2:c.1308+79_1308+82dup | ENSP00000464772.2:n.1308+79_1308+82dup | |
| ENST00000593223.2:c.1308+79_1308+82dup | ENSP00000466118.2:n.1308+79_1308+82dup | |
| ENST00000611848.2:c.1308+79_1308+82dup | ENSP00000478613.2:n.1308+79_1308+82dup | |
| ENST00000684953.1:n.2680+79_2680+82dup | ||
| ENST00000685090.1:n.1759+79_1759+82dup | ||
| ENST00000685232.1:n.1416+79_1416+82dup | ||
| ENST00000688574.1:n.1416+79_1416+82dup | ||
| ENST00000691124.1:n.2790+79_2790+82dup | ||
| ENST00000342988.8:c.1308+79_1308+82dup MANE Select | ENSP00000341551.3:n.1308+79_1308+82dup | |
| ENST00000342988.7:c.1308+79_1308+82dup | ENSP00000341551.3:n.1308+79_1308+82dup | |
| ENST00000398417.6:c.1308+79_1308+82dup | ENSP00000381452.1:n.1308+79_1308+82dup | |
| ENST00000588745.5:c.1020+79_1020+82dup | ENSP00000464901.1:n.1020+79_1020+82dup | |
| ENST00000590499.1:n.366+79_366+82dup | ||
| ENST00000591126.5:n.3309+79_3309+82dup | ||
| ENST00000592186.5:c.955+7350_955+7353dup | ENSP00000468611.1:n.955+7350_955+7353dup | |
| ENST00000593223.1:c.75+79_75+82dup | ENSP00000466118.1:n.75+79_75+82dup | |
| ENST00000611848.1:c.508+79_508+82dup | ||
| NM_005359.5:c.1308+79_1308+82dup , LRG_318t1:c.1308+79_1308+82dup | NP_005350.1:n.1308+79_1308+82dup | |
| NM_005359.6:c.1308+79_1308+82dup MANE Select | NP_005350.1:n.1308+79_1308+82dup |