Linked Data
gnomAD v2:
11-67352697-C-CCGAG
gnomAD v3:
11-67585226-C-CCGAG
gnomAD v4:
11-67585226-C-CCGAG
MyVariant Identifiers:
chr11:g.67352697_67352698insCGAG (hg19)
chr11:g.67585226_67585227insCGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585226_67585227insCGAG , CM000673.2:g.67585226_67585227insCGAG | GRCh38 |
| NC_000011.9:g.67352697_67352698insCGAG , CM000673.1:g.67352697_67352698insCGAG | GRCh37 |
| NC_000011.8:g.67109273_67109274insCGAG | NCBI36 |
| NG_012075.1:g.6632_6633insCGAG , LRG_723:g.6632_6633insCGAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.321_322insCGAG | ENSP00000381604.1:p.Ile108ArgfsTer11 | |
| ENST00000398606.10:c.321_322insCGAG MANE Select | ENSP00000381607.3:p.Ile108ArgfsTer7 | |
| ENST00000646888.1:c.*37_*38insCGAG | ENSP00000494477.1:n.*37_*38insCGAG | |
| ENST00000398603.5:c.321_322insCGAG | ENSP00000381604.1:p.Ile108ArgfsTer11 | |
| ENST00000398606.7:c.321_322insCGAG | ENSP00000381607.3:p.Ile108ArgfsTer7 | |
| ENST00000467591.1:n.432_433insCGAG | ||
| ENST00000494593.1:n.1116_1117insCGAG | ||
| ENST00000498765.5:c.384_385insCGAG | ||
| NM_000852.3:c.321_322insCGAG , LRG_723t1:c.321_322insCGAG | NP_000843.1:p.Ile108ArgfsTer7 | |
| NM_000852.4:c.321_322insCGAG MANE Select | NP_000843.1:p.Ile108ArgfsTer7 |