Linked Data
dbSNP Id:
rs1449939316
gnomAD v2:
18-48593690-AAC-A
gnomAD v3:
18-51067320-AAC-A
gnomAD v4:
18-51067320-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51067324_51067325del , CM000680.2:g.51067324_51067325del | GRCh38 |
| NC_000018.9:g.48593694_48593695del , CM000680.1:g.48593694_48593695del | GRCh37 |
| NC_000018.8:g.46847692_46847693del | NCBI36 |
| NG_013013.2:g.104285_104286del , LRG_318:g.104285_104286del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1308+137_1308+138del | ENSP00000465878.2:n.1308+137_1308+138del | |
| ENST00000589076.6:c.1308+137_1308+138del | ENSP00000466934.2:n.1308+137_1308+138del | |
| ENST00000589941.2:c.1308+137_1308+138del | ENSP00000465874.2:n.1308+137_1308+138del | |
| ENST00000590061.2:c.1308+137_1308+138del | ENSP00000464772.2:n.1308+137_1308+138del | |
| ENST00000593223.2:c.1308+137_1308+138del | ENSP00000466118.2:n.1308+137_1308+138del | |
| ENST00000611848.2:c.1308+137_1308+138del | ENSP00000478613.2:n.1308+137_1308+138del | |
| ENST00000684953.1:n.2680+137_2680+138del | ||
| ENST00000685090.1:n.1759+137_1759+138del | ||
| ENST00000685232.1:n.1416+137_1416+138del | ||
| ENST00000688574.1:n.1416+137_1416+138del | ||
| ENST00000691124.1:n.2790+137_2790+138del | ||
| ENST00000342988.8:c.1308+137_1308+138del MANE Select | ENSP00000341551.3:n.1308+137_1308+138del | |
| ENST00000342988.7:c.1308+137_1308+138del | ENSP00000341551.3:n.1308+137_1308+138del | |
| ENST00000398417.6:c.1308+137_1308+138del | ENSP00000381452.1:n.1308+137_1308+138del | |
| ENST00000588745.5:c.1020+137_1020+138del | ENSP00000464901.1:n.1020+137_1020+138del | |
| ENST00000590499.1:n.366+137_366+138del | ||
| ENST00000591126.5:n.3309+137_3309+138del | ||
| ENST00000592186.5:c.955+7408_955+7409del | ENSP00000468611.1:n.955+7408_955+7409del | |
| ENST00000593223.1:c.75+137_75+138del | ENSP00000466118.1:n.75+137_75+138del | |
| ENST00000611848.1:c.508+137_508+138del | ||
| NM_005359.5:c.1308+137_1308+138del , LRG_318t1:c.1308+137_1308+138del | NP_005350.1:n.1308+137_1308+138del | |
| NM_005359.6:c.1308+137_1308+138del MANE Select | NP_005350.1:n.1308+137_1308+138del |