Linked Data
dbSNP Id:
rs1185907700
gnomAD v4:
11-121303407-A-AT
MyVariant Identifiers:
chr11:g.121174116_121174117insT (hg19)
chr11:g.121303407_121303408insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121303414dup , CM000673.2:g.121303414dup | GRCh38 |
| NC_000011.9:g.121174123dup , CM000673.1:g.121174123dup | GRCh37 |
| NC_000011.8:g.120679333dup | NCBI36 |
| NG_009446.1:g.15736dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264027.9:c.39dup MANE Select | ENSP00000264027.4:p.Thr14TyrfsTer13 | |
| ENST00000264027.8:c.39dup | ENSP00000264027.4:p.Thr14TyrfsTer13 | |
| ENST00000392789.2:c.39dup | ENSP00000376539.2:p.Thr14TyrfsTer13 | |
| ENST00000524683.5:n.95dup | ||
| ENST00000527762.5:c.39dup | ENSP00000436290.1:p.Thr14TyrfsTer13 | |
| ENST00000531140.1:n.107dup | ||
| ENST00000534230.5:c.39dup | ENSP00000432550.1:p.Thr14TyrfsTer13 | |
| ENST00000534455.5:n.185dup | ||
| NM_001024956.2:c.39dup | NP_001020127.1:p.Thr14TyrfsTer13 | |
| NM_006918.4:c.39dup | NP_008849.2:p.Thr14TyrfsTer13 | |
| NM_006918.5:c.39dup MANE Select | NP_008849.2:p.Thr14TyrfsTer13 | |
| NM_001024956.3:c.39dup | NP_001020127.1:p.Thr14TyrfsTer13 |