Linked Data
dbSNP Id:
rs1237945483
gnomAD v3:
11-121306982-A-AT
gnomAD v4:
11-121306982-A-AT
MyVariant Identifiers:
chr11:g.121177691_121177692insT (hg19)
chr11:g.121306982_121306983insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121306983dup , CM000673.2:g.121306983dup | GRCh38 |
| NC_000011.9:g.121177692dup , CM000673.1:g.121177692dup | GRCh37 |
| NC_000011.8:g.120682902dup | NCBI36 |
| NG_009446.1:g.19305dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.445-74dup MANE Select | ENSP00000264027.4:n.445-74dup | |
| ENST00000264027.8:c.445-74dup | ENSP00000264027.4:n.445-74dup | |
| ENST00000392789.2:c.445-74dup | ENSP00000376539.2:n.445-74dup | |
| ENST00000527183.1:n.738-74dup | ||
| ENST00000527762.5:c.466-74dup | ENSP00000436290.1:n.466-74dup | |
| ENST00000528991.1:n.138-74dup | ||
| ENST00000534230.5:c.445-74dup | ENSP00000432550.1:n.445-74dup | |
| NM_001024956.2:c.445-74dup | NP_001020127.1:n.445-74dup | |
| NM_006918.4:c.445-74dup | NP_008849.2:n.445-74dup | |
| NM_006918.5:c.445-74dup MANE Select | NP_008849.2:n.445-74dup | |
| NM_001024956.3:c.445-74dup | NP_001020127.1:n.445-74dup |