Linked Data
dbSNP Id:
rs1555141854
gnomAD v3:
12-3109307-A-AGTGTGT
gnomAD v4:
12-3109307-A-AGTGTGT
MyVariant Identifiers:
chr12:g.3218473_3218474insGTGTGT (hg19)
chr12:g.3109307_3109308insGTGTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3109322_3109327dup , CM000674.2:g.3109322_3109327dup | GRCh38 |
| NC_000012.11:g.3218488_3218493dup , CM000674.1:g.3218488_3218493dup | GRCh37 |
| NC_000012.10:g.3088749_3088754dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011898.10:c.-18+25603_-18+25608dup MANE Select | ENSP00000011898.5:n.-18+25603_-18+25608dup | |
| ENST00000649909.1:c.-130+25603_-130+25608dup | ENSP00000497370.1:n.-130+25603_-130+25608dup | |
| ENST00000011898.9:c.-18+25603_-18+25608dup | ENSP00000011898.5:n.-18+25603_-18+25608dup | |
| ENST00000444315.6:c.-18+25603_-18+25608dup | ENSP00000412908.2:n.-18+25603_-18+25608dup | |
| ENST00000537971.5:c.-18+31869_-18+31874dup | ENSP00000444799.1:n.-18+31869_-18+31874dup | |
| NM_001168320.1:c.-18+31869_-18+31874dup | NP_001161792.1:n.-18+31869_-18+31874dup | |
| NM_006675.4:c.-18+25603_-18+25608dup | NP_006666.1:n.-18+25603_-18+25608dup | |
| XM_011520912.1:c.-349+25603_-349+25608dup | XP_011519214.1:n.-349+25603_-349+25608dup | |
| XM_011520912.3:c.-349+25603_-349+25608dup | XP_011519214.1:n.-349+25603_-349+25608dup | |
| NM_006675.5:c.-18+25603_-18+25608dup MANE Select | NP_006666.1:n.-18+25603_-18+25608dup | |
| NM_001168320.2:c.-18+31869_-18+31874dup | NP_001161792.1:n.-18+31869_-18+31874dup |