Linked Data
dbSNP Id:
rs1452225964
gnomAD v2:
11-47365204-C-CCCA
gnomAD v3:
11-47343653-C-CCCA
gnomAD v4:
11-47343653-C-CCCA
MyVariant Identifiers:
chr11:g.47365204_47365205insCCA (hg19)
chr11:g.47343653_47343654insCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47343656_47343658dup , CM000673.2:g.47343656_47343658dup | GRCh38 |
| NC_000011.9:g.47365207_47365209dup , CM000673.1:g.47365207_47365209dup | GRCh37 |
| NC_000011.8:g.47321783_47321785dup | NCBI36 |
| NG_007667.1:g.14047_14049dup , LRG_386:g.14047_14049dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1091-32_1091-30dup MANE Select | ENSP00000442795.1:n.1091-32_1091-30dup | |
| ENST00000256993.8:c.1091-32_1091-30dup | ENSP00000256993.5:n.1091-32_1091-30dup | |
| ENST00000399249.6:c.1091-32_1091-30dup | ENSP00000382193.2:n.1091-32_1091-30dup | |
| ENST00000544791.1:c.1091-32_1091-30dup | ENSP00000444259.1:n.1091-32_1091-30dup | |
| ENST00000545968.5:c.1091-32_1091-30dup | ENSP00000442795.1:n.1091-32_1091-30dup | |
| NM_000256.3:c.1091-32_1091-30dup , LRG_386t1:c.1091-32_1091-30dup MANE Select | NP_000247.2:n.1091-32_1091-30dup | |
| XM_011520117.1:c.1073-32_1073-30dup | XP_011518419.1:n.1073-32_1073-30dup | |
| XM_011520118.1:c.1091-32_1091-30dup | XP_011518420.1:n.1091-32_1091-30dup |