Linked Data
dbSNP Id:
rs1446540034
gnomAD v2:
11-68201290-C-CGAGGCGGACTGT
gnomAD v3:
11-68433822-C-CGAGGCGGACTGT
gnomAD v4:
11-68433822-C-CGAGGCGGACTGT
MyVariant Identifiers:
chr11:g.68201290_68201291insGAGGCGGACTGT (hg19)
chr11:g.68433822_68433823insGAGGCGGACTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68433825_68433836dup , CM000673.2:g.68433825_68433836dup | GRCh38 |
| NC_000011.9:g.68201293_68201304dup , CM000673.1:g.68201293_68201304dup | GRCh37 |
| NC_000011.8:g.67957869_67957880dup | NCBI36 |
| NG_015835.1:g.126186_126197dup | |
| NG_015835.2:g.126186_126197dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294304.12:c.3987_3998dup MANE Select | ENSP00000294304.6:p.Cys1332_Asp1333insGlu... | |
| ENST00000294304.11:c.3987_3998dup | ENSP00000294304.6:p.Cys1332_Asp1333insGlu... | |
| ENST00000529993.5:c.*2593_*2604dup | ENSP00000436652.1:n.*2593_*2604dup | |
| NM_001291902.1:c.2244_2255dup | NP_001278831.1:p.Cys751_Asp752insGluAlaAs... | |
| NM_002335.3:c.3987_3998dup | NP_002326.2:p.Cys1332_Asp1333insGluAlaAsp... | |
| XM_005273994.2:c.3987_3998dup | XP_005274051.1:p.Cys1332_Asp1333insGluAla... | |
| XM_011545029.1:c.4014_4025dup | XP_011543331.1:p.Cys1341_Asp1342insGluAla... | |
| XM_011545030.1:c.4014_4025dup | XP_011543332.1:p.Cys1341_Asp1342insGluAla... | |
| XM_011545031.1:c.4014_4025dup | XP_011543333.1:p.Cys1341_Asp1342insGluAla... | |
| XR_949925.1:n.4029_4040dup | ||
| XR_949926.1:n.4029_4040dup | ||
| XM_017017735.1:c.2244_2255dup | XP_016873224.1:p.Cys751_Asp752insGluAlaAs... | |
| XM_017017736.1:c.1527_1538dup | XP_016873225.1:p.Cys512_Asp513insGluAlaAs... | |
| XR_949925.2:n.4029_4040dup | ||
| XR_949926.2:n.4029_4040dup | ||
| NM_002335.4:c.3987_3998dup MANE Select | NP_002326.2:p.Cys1332_Asp1333insGluAlaAsp... | |
| NM_001291902.2:c.2244_2255dup | NP_001278831.1:p.Cys751_Asp752insGluAlaAs... |