Linked Data
dbSNP Id:
rs545601685
gnomAD v2:
9-133364633-T-TTA
gnomAD v3:
9-130489246-T-TTA
gnomAD v4:
9-130489246-T-TTA
MyVariant Identifiers:
chr9:g.133364633_133364634insTA (hg19)
chr9:g.130489246_130489247insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489247_130489248insAT , CM000671.2:g.130489247_130489248insAT | GRCh38 |
| NC_000009.11:g.133364634_133364635insAT , CM000671.1:g.133364634_133364635insAT | GRCh37 |
| NC_000009.10:g.132354455_132354456insAT | NCBI36 |
| NG_011542.1:g.49541_49542insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.839-86_839-85insAT MANE Select | ENSP00000253004.6:n.839-86_839-85insAT | |
| ENST00000352480.9:c.839-86_839-85insAT | ENSP00000253004.6:n.839-86_839-85insAT | |
| ENST00000372386.6:n.110-86_110-85insAT | ||
| ENST00000372393.7:c.839-86_839-85insAT | ENSP00000361469.2:n.839-86_839-85insAT | |
| ENST00000372394.5:c.839-86_839-85insAT | ENSP00000361471.1:n.839-86_839-85insAT | |
| ENST00000470849.4:n.564-86_564-85insAT | ||
| ENST00000492400.5:n.348-86_348-85insAT | ||
| ENST00000493984.6:n.616-86_616-85insAT | ||
| NM_000050.4:c.839-86_839-85insAT | NP_000041.2:n.839-86_839-85insAT | |
| NM_054012.3:c.839-86_839-85insAT | NP_446464.1:n.839-86_839-85insAT | |
| XM_005272200.2:c.839-86_839-85insAT | XP_005272257.1:n.839-86_839-85insAT | |
| XM_011518705.1:c.953-86_953-85insAT | XP_011517007.1:n.953-86_953-85insAT | |
| XM_005272200.3:c.839-86_839-85insAT | XP_005272257.1:n.839-86_839-85insAT | |
| XM_011518705.2:c.953-86_953-85insAT | XP_011517007.1:n.953-86_953-85insAT | |
| XM_017014729.1:c.935-86_935-85insAT | XP_016870218.1:n.935-86_935-85insAT | |
| NM_054012.4:c.839-86_839-85insAT MANE Select | NP_446464.1:n.839-86_839-85insAT |