Linked Data
dbSNP Id:
rs1558490783
gnomAD v2:
2-26705526-T-TGTGAGTGGGCGCATGTGTGC
gnomAD v3:
2-26482658-T-TGTGAGTGGGCGCATGTGTGC
gnomAD v4:
2-26482658-T-TGTGAGTGGGCGCATGTGTGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482669_26482688dup , CM000664.2:g.26482669_26482688dup | GRCh38 |
| NC_000002.11:g.26705537_26705556dup , CM000664.1:g.26705537_26705556dup | GRCh37 |
| NC_000002.10:g.26559041_26559060dup | NCBI36 |
| NG_009937.1:g.81021_81040dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1393-86_1393-67dup MANE Select | ENSP00000272371.2:n.1393-86_1393-67dup | |
| ENST00000272371.6:c.1393-86_1393-67dup | ENSP00000272371.2:n.1393-86_1393-67dup | |
| ENST00000403946.7:c.1393-86_1393-67dup | ENSP00000385255.3:n.1393-86_1393-67dup | |
| NM_001287489.1:c.1393-86_1393-67dup | NP_001274418.1:n.1393-86_1393-67dup | |
| NM_194248.2:c.1393-86_1393-67dup | NP_919224.1:n.1393-86_1393-67dup | |
| XM_005264644.2:c.1438-86_1438-67dup | XP_005264701.1:n.1438-86_1438-67dup | |
| XM_011533185.1:c.1438-86_1438-67dup | XP_011531487.1:n.1438-86_1438-67dup | |
| XM_017005338.1:c.1393-86_1393-67dup | XP_016860827.1:n.1393-86_1393-67dup | |
| NM_001287489.2:c.1393-86_1393-67dup | NP_001274418.1:n.1393-86_1393-67dup | |
| NM_194248.3:c.1393-86_1393-67dup MANE Select | NP_919224.1:n.1393-86_1393-67dup |