Linked Data
ClinVar Variation Id:
2878374
ClinVar RCV Id:
RCV003757941
dbSNP Id:
rs754447504
ExAC:
11:94209436 T / TG
gnomAD v2:
11-94209436-T-TG
gnomAD v3:
11-94476270-T-TG
gnomAD v4:
11-94476270-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94476270_94476271insG , CM000673.2:g.94476270_94476271insG | GRCh38 |
| NC_000011.9:g.94209436_94209437insG , CM000673.1:g.94209436_94209437insG | GRCh37 |
| NC_000011.8:g.93849084_93849085insG | NCBI36 |
| NG_007261.1:g.22604_22605insC , LRG_85:g.22604_22605insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.659+18_659+19insC MANE Select | ENSP00000325863.4:n.659+18_659+19insC | |
| ENST00000323929.7:c.659+18_659+19insC | ENSP00000325863.3:n.659+18_659+19insC | |
| ENST00000323977.7:c.659+18_659+19insC | ENSP00000326094.3:n.659+18_659+19insC | |
| ENST00000393241.8:c.659+18_659+19insC | ENSP00000376933.4:n.659+18_659+19insC | |
| ENST00000407439.7:c.668+18_668+19insC | ENSP00000385614.3:n.668+18_668+19insC | |
| ENST00000540013.5:c.659+18_659+19insC | ENSP00000440986.1:n.659+18_659+19insC | |
| NM_005590.3:c.659+18_659+19insC | NP_005581.2:n.659+18_659+19insC | |
| NM_005591.3:c.659+18_659+19insC , LRG_85t1:c.659+18_659+19insC | NP_005582.1:n.659+18_659+19insC | |
| XM_005274008.2:c.191+18_191+19insC | XP_005274065.1:n.191+18_191+19insC | |
| XM_006718842.2:c.659+18_659+19insC | XP_006718905.1:n.659+18_659+19insC | |
| XM_011542837.1:c.659+18_659+19insC | XP_011541139.1:n.659+18_659+19insC | |
| XR_947828.1:n.955+18_955+19insC | ||
| NM_001330347.1:c.659+18_659+19insC | NP_001317276.1:n.659+18_659+19insC | |
| XM_005274008.3:c.191+18_191+19insC | XP_005274065.1:n.191+18_191+19insC | |
| XM_006718842.3:c.659+18_659+19insC | XP_006718905.1:n.659+18_659+19insC | |
| XM_011542837.2:c.659+18_659+19insC | XP_011541139.1:n.659+18_659+19insC | |
| XM_017017772.1:c.659+18_659+19insC | XP_016873261.1:n.659+18_659+19insC | |
| XR_947828.2:n.955+18_955+19insC | ||
| NM_001330347.2:c.659+18_659+19insC | NP_001317276.1:n.659+18_659+19insC | |
| NM_005590.4:c.659+18_659+19insC | NP_005581.2:n.659+18_659+19insC | |
| NM_005591.4:c.659+18_659+19insC MANE Select | NP_005582.1:n.659+18_659+19insC |