Linked Data
dbSNP Id:
rs560687812
gnomAD v3:
12-3109307-A-AGAGAGAGAGAGAGTGTGT
gnomAD v4:
12-3109307-A-AGAGAGAGAGAGAGTGTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3109308_3109309insAGAGAGAGAGAGTGTGTG , CM000674.2:g.3109308_3109309insAGAGAGAGAGAGTGTGTG | GRCh38 |
| NC_000012.11:g.3218474_3218475insAGAGAGAGAGAGTGTGTG , CM000674.1:g.3218474_3218475insAGAGAGAGAGAGTGTGTG | GRCh37 |
| NC_000012.10:g.3088735_3088736insAGAGAGAGAGAGTGTGTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011898.10:c.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG MANE Select | ENSP00000011898.5:n.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG | |
| ENST00000649909.1:c.-130+25589_-130+25590insAGAGAGAGAGAGTGTGTG | ENSP00000497370.1:n.-130+25589_-130+25590insAGAGAGAGAGAGTGTGT... | |
| ENST00000011898.9:c.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG | ENSP00000011898.5:n.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG | |
| ENST00000444315.6:c.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG | ENSP00000412908.2:n.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG | |
| ENST00000537971.5:c.-18+31855_-18+31856insAGAGAGAGAGAGTGTGTG | ENSP00000444799.1:n.-18+31855_-18+31856insAGAGAGAGAGAGTGTGTG | |
| NM_001168320.1:c.-18+31855_-18+31856insAGAGAGAGAGAGTGTGTG | NP_001161792.1:n.-18+31855_-18+31856insAGAGAGAGAGAGTGTGTG | |
| NM_006675.4:c.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG | NP_006666.1:n.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG | |
| XM_011520912.1:c.-349+25589_-349+25590insAGAGAGAGAGAGTGTGTG | XP_011519214.1:n.-349+25589_-349+25590insAGAGAGAGAGAGTGTGTG | |
| XM_011520912.3:c.-349+25589_-349+25590insAGAGAGAGAGAGTGTGTG | XP_011519214.1:n.-349+25589_-349+25590insAGAGAGAGAGAGTGTGTG | |
| NM_006675.5:c.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG MANE Select | NP_006666.1:n.-18+25589_-18+25590insAGAGAGAGAGAGTGTGTG | |
| NM_001168320.2:c.-18+31855_-18+31856insAGAGAGAGAGAGTGTGTG | NP_001161792.1:n.-18+31855_-18+31856insAGAGAGAGAGAGTGTGTG |