Linked Data
dbSNP Id:
rs747953382
ExAC:
11:8111692 C / CCCGGAG
gnomAD v2:
11-8111692-C-CCCGGAG
gnomAD v4:
11-8090145-C-CCCGGAG
MyVariant Identifiers:
chr11:g.8111692_8111693insCCGGAG (hg19)
chr11:g.8090145_8090146insCCGGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090150_8090155dup , CM000673.2:g.8090150_8090155dup | GRCh38 |
| NC_000011.9:g.8111697_8111702dup , CM000673.1:g.8111697_8111702dup | GRCh37 |
| NC_000011.8:g.8068273_8068278dup | NCBI36 |
| NG_029912.1:g.56518_56523dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.172_177dup MANE Select | ENSP00000299506.3:p.Arg59_Arg60insSerArg | |
| ENST00000299506.2:c.172_177dup | ENSP00000299506.2:p.Arg59_Arg60insSerArg | |
| ENST00000305253.8:c.337_342dup | ENSP00000305426.4:p.Arg114_Arg115insSerArg | |
| ENST00000534099.5:c.190_195dup | ENSP00000434400.1:p.Arg65_Arg66insSerArg | |
| NM_003320.4:c.337_342dup | NP_003311.2:p.Arg114_Arg115insSerArg | |
| NM_177972.2:c.172_177dup | NP_813977.1:p.Arg59_Arg60insSerArg | |
| XM_005253109.2:c.298_303dup | XP_005253166.1:p.Arg101_Arg102insSerArg | |
| XM_011520344.1:c.208_213dup | XP_011518646.1:p.Arg71_Arg72insSerArg | |
| XM_005253109.3:c.298_303dup | XP_005253166.1:p.Arg101_Arg102insSerArg | |
| XM_011520344.2:c.208_213dup | XP_011518646.1:p.Arg71_Arg72insSerArg | |
| NM_177972.3:c.172_177dup MANE Select | NP_813977.1:p.Arg59_Arg60insSerArg | |
| NM_003320.5:c.337_342dup | NP_003311.2:p.Arg114_Arg115insSerArg |