Linked Data
ClinVar Variation Id:
188532
dbSNP Id:
rs786204329
gnomAD v4:
11-47348494-A-AGTGAAGGCAGGCTGGGCATCGGTGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47348498_47348523dup , CM000673.2:g.47348498_47348523dup | GRCh38 |
| NC_000011.9:g.47370049_47370074dup , CM000673.1:g.47370049_47370074dup | GRCh37 |
| NC_000011.8:g.47326625_47326650dup | NCBI36 |
| NG_007667.1:g.9183_9208dup , LRG_386:g.9183_9208dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.676_701dup MANE Select | ENSP00000442795.1:p.Gly235SerfsTer? | |
| ENST00000256993.8:c.676_701dup | ENSP00000256993.5:p.Gly235SerfsTer? | |
| ENST00000399249.6:c.676_701dup | ENSP00000382193.2:p.Gly235SerfsTer? | |
| ENST00000544791.1:c.676_701dup | ENSP00000444259.1:p.Gly235SerfsTer? | |
| ENST00000545968.5:c.676_701dup | ENSP00000442795.1:p.Gly235SerfsTer? | |
| NM_000256.3:c.676_701dup , LRG_386t1:c.676_701dup MANE Select | NP_000247.2:p.Gly235SerfsTer? | |
| XM_011520117.1:c.676_701dup | XP_011518419.1:p.Gly235SerfsTer? | |
| XM_011520118.1:c.676_701dup | XP_011518420.1:p.Gly235SerfsTer? |