Linked Data
dbSNP Id:
rs201358800
gnomAD v2:
9-133364629-A-ATT
gnomAD v3:
9-130489242-A-ATT
gnomAD v4:
9-130489242-A-ATT
MyVariant Identifiers:
chr9:g.133364629_133364630insTT (hg19)
chr9:g.130489242_130489243insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489243_130489244dup , CM000671.2:g.130489243_130489244dup | GRCh38 |
| NC_000009.11:g.133364630_133364631dup , CM000671.1:g.133364630_133364631dup | GRCh37 |
| NC_000009.10:g.132354451_132354452dup | NCBI36 |
| NG_011542.1:g.49537_49538dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.839-90_839-89dup MANE Select | ENSP00000253004.6:n.839-90_839-89dup | |
| ENST00000352480.9:c.839-90_839-89dup | ENSP00000253004.6:n.839-90_839-89dup | |
| ENST00000372386.6:n.110-90_110-89dup | ||
| ENST00000372393.7:c.839-90_839-89dup | ENSP00000361469.2:n.839-90_839-89dup | |
| ENST00000372394.5:c.839-90_839-89dup | ENSP00000361471.1:n.839-90_839-89dup | |
| ENST00000470849.4:n.564-90_564-89dup | ||
| ENST00000492400.5:n.348-90_348-89dup | ||
| ENST00000493984.6:n.616-90_616-89dup | ||
| NM_000050.4:c.839-90_839-89dup | NP_000041.2:n.839-90_839-89dup | |
| NM_054012.3:c.839-90_839-89dup | NP_446464.1:n.839-90_839-89dup | |
| XM_005272200.2:c.839-90_839-89dup | XP_005272257.1:n.839-90_839-89dup | |
| XM_011518705.1:c.953-90_953-89dup | XP_011517007.1:n.953-90_953-89dup | |
| XM_005272200.3:c.839-90_839-89dup | XP_005272257.1:n.839-90_839-89dup | |
| XM_011518705.2:c.953-90_953-89dup | XP_011517007.1:n.953-90_953-89dup | |
| XM_017014729.1:c.935-90_935-89dup | XP_016870218.1:n.935-90_935-89dup | |
| NM_054012.4:c.839-90_839-89dup MANE Select | NP_446464.1:n.839-90_839-89dup |