Linked Data
dbSNP Id:
rs1267846759
gnomAD v2:
11-119149126-C-CT
gnomAD v3:
11-119278416-C-CT
gnomAD v4:
11-119278416-C-CT
MyVariant Identifiers:
chr11:g.119149126_119149127insT (hg19)
chr11:g.119278416_119278417insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278424dup , CM000673.2:g.119278424dup | GRCh38 |
| NC_000011.9:g.119149134dup , CM000673.1:g.119149134dup | GRCh37 |
| NC_000011.8:g.118654344dup | NCBI36 |
| NG_016808.1:g.77145dup , LRG_608:g.77145dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*680-86dup | ENSP00000515005.1:n.*680-86dup | |
| ENST00000264033.6:c.1228-86dup MANE Select | ENSP00000264033.3:n.1228-86dup | |
| ENST00000637974.1:c.1222-86dup | ENSP00000490763.1:n.1222-86dup | |
| ENST00000264033.5:c.1228-86dup | ENSP00000264033.3:n.1228-86dup | |
| ENST00000634586.1:c.1228-86dup | ENSP00000489218.1:n.1228-86dup | |
| ENST00000634840.1:c.1228-86dup | ENSP00000489324.1:n.1228-86dup | |
| NM_005188.3:c.1228-86dup , LRG_608t1:c.1228-86dup | NP_005179.2:n.1228-86dup | |
| XM_011543057.1:c.1228-86dup | XP_011541359.1:n.1228-86dup | |
| NM_005188.4:c.1228-86dup MANE Select | NP_005179.2:n.1228-86dup |