Linked Data
dbSNP Id:
rs1400561354
gnomAD v2:
2-141795473-A-AC
gnomAD v3:
2-141037904-A-AC
gnomAD v4:
2-141037904-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.141037904_141037905insC , CM000664.2:g.141037904_141037905insC | GRCh38 |
| NC_000002.11:g.141795473_141795474insC , CM000664.1:g.141795473_141795474insC | GRCh37 |
| NC_000002.10:g.141511943_141511944insC | NCBI36 |
| NG_051023.1:g.1099559_1099560insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389484.8:c.1789+11081_1789+11082insG MANE Select | ENSP00000374135.3:n.1789+11081_1789+11082insG | |
| ENST00000389484.7:c.1789+11081_1789+11082insG | ENSP00000374135.3:n.1789+11081_1789+11082insG | |
| ENST00000434794.1:c.206-55629_206-55628insG | ENSP00000413239.1:n.206-55629_206-55628insG | |
| ENST00000618808.4:c.1447+11081_1447+11082insG | ENSP00000478868.1:n.1447+11081_1447+11082insG | |
| NM_018557.2:c.1789+11081_1789+11082insG | NP_061027.2:n.1789+11081_1789+11082insG | |
| XM_011511352.1:c.1900+11081_1900+11082insG | XP_011509654.1:n.1900+11081_1900+11082insG | |
| XM_017004341.1:c.1399+11081_1399+11082insG | XP_016859830.1:n.1399+11081_1399+11082insG | |
| XR_001738778.1:n.3523+11081_3523+11082insG | ||
| NM_018557.3:c.1789+11081_1789+11082insG MANE Select | NP_061027.2:n.1789+11081_1789+11082insG |