Linked Data
dbSNP Id:
rs1175266571
gnomAD v2:
12-3218437-T-TGTGTGTGTGC
gnomAD v3:
12-3109271-T-TGTGTGTGTGC
gnomAD v4:
12-3109271-T-TGTGTGTGTGC
MyVariant Identifiers:
chr12:g.3218437_3218438insGTGTGTGTGC (hg19)
chr12:g.3109271_3109272insGTGTGTGTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3109280_3109281insCGTGTGTGTG , CM000674.2:g.3109280_3109281insCGTGTGTGTG | GRCh38 |
| NC_000012.11:g.3218446_3218447insCGTGTGTGTG , CM000674.1:g.3218446_3218447insCGTGTGTGTG | GRCh37 |
| NC_000012.10:g.3088707_3088708insCGTGTGTGTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011898.10:c.-18+25561_-18+25562insCGTGTGTGTG MANE Select | ENSP00000011898.5:n.-18+25561_-18+25562insCGTGTGTGTG | |
| ENST00000649909.1:c.-130+25561_-130+25562insCGTGTGTGTG | ENSP00000497370.1:n.-130+25561_-130+25562insCGTGTGTGTG | |
| ENST00000011898.9:c.-18+25561_-18+25562insCGTGTGTGTG | ENSP00000011898.5:n.-18+25561_-18+25562insCGTGTGTGTG | |
| ENST00000444315.6:c.-18+25561_-18+25562insCGTGTGTGTG | ENSP00000412908.2:n.-18+25561_-18+25562insCGTGTGTGTG | |
| ENST00000537971.5:c.-18+31827_-18+31828insCGTGTGTGTG | ENSP00000444799.1:n.-18+31827_-18+31828insCGTGTGTGTG | |
| NM_001168320.1:c.-18+31827_-18+31828insCGTGTGTGTG | NP_001161792.1:n.-18+31827_-18+31828insCGTGTGTGTG | |
| NM_006675.4:c.-18+25561_-18+25562insCGTGTGTGTG | NP_006666.1:n.-18+25561_-18+25562insCGTGTGTGTG | |
| XM_011520912.1:c.-349+25561_-349+25562insCGTGTGTGTG | XP_011519214.1:n.-349+25561_-349+25562insCGTGTGTGTG | |
| XM_011520912.3:c.-349+25561_-349+25562insCGTGTGTGTG | XP_011519214.1:n.-349+25561_-349+25562insCGTGTGTGTG | |
| NM_006675.5:c.-18+25561_-18+25562insCGTGTGTGTG MANE Select | NP_006666.1:n.-18+25561_-18+25562insCGTGTGTGTG | |
| NM_001168320.2:c.-18+31827_-18+31828insCGTGTGTGTG | NP_001161792.1:n.-18+31827_-18+31828insCGTGTGTGTG |