Linked Data
dbSNP Id:
rs1207774570
gnomAD v4:
8-41933165-A-AGGCTGC
MyVariant Identifiers:
chr8:g.41790683_41790684insGGCTGC (hg19)
chr8:g.41933165_41933166insGGCTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933172_41933177dup , CM000670.2:g.41933172_41933177dup | GRCh38 |
| NC_000008.10:g.41790690_41790695dup , CM000670.1:g.41790690_41790695dup | GRCh37 |
| NC_000008.9:g.41909847_41909852dup | NCBI36 |
| NG_042093.1:g.123856_123861dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.5049_5054dup MANE Select | ENSP00000265713.2:p.Pro1685_Gln1686insGlnPro | |
| ENST00000396930.4:c.5049_5054dup | ENSP00000380136.3:p.Pro1685_Gln1686insGlnPro | |
| ENST00000406337.6:c.5055_5060dup | ENSP00000385888.2:p.Pro1687_Gln1688insGlnPro | |
| ENST00000649817.1:c.3730_3735dup | ||
| ENST00000265713.6:c.5049_5054dup | ENSP00000265713.2:p.Pro1685_Gln1686insGlnPro | |
| ENST00000396930.3:c.5049_5054dup | ENSP00000380136.3:p.Pro1685_Gln1686insGlnPro | |
| ENST00000406337.5:c.5049_5054dup | ENSP00000385888.1:p.Pro1685_Gln1686insGlnPro | |
| NM_001099412.1:c.5049_5054dup | NP_001092882.1:p.Pro1685_Gln1686insGlnPro | |
| NM_001099413.1:c.5049_5054dup | NP_001092883.1:p.Pro1685_Gln1686insGlnPro | |
| NM_006766.3:c.5049_5054dup | NP_006757.2:p.Pro1685_Gln1686insGlnPro | |
| NM_006766.4:c.5049_5054dup | NP_006757.2:p.Pro1685_Gln1686insGlnPro | |
| XM_011544656.1:c.5181_5186dup | XP_011542958.1:p.Pro1729_Gln1730insGlnPro | |
| XM_011544657.1:c.5181_5186dup | XP_011542959.1:p.Pro1729_Gln1730insGlnPro | |
| XM_011544658.1:c.5181_5186dup | XP_011542960.1:p.Pro1729_Gln1730insGlnPro | |
| XM_011544659.1:c.5160_5165dup | XP_011542961.1:p.Pro1722_Gln1723insGlnPro | |
| XM_011544660.1:c.5067_5072dup | XP_011542962.1:p.Pro1691_Gln1692insGlnPro | |
| XM_011544656.2:c.5181_5186dup | XP_011542958.1:p.Pro1729_Gln1730insGlnPro | |
| XM_011544657.3:c.5181_5186dup | XP_011542959.1:p.Pro1729_Gln1730insGlnPro | |
| XM_011544658.3:c.5181_5186dup | XP_011542960.1:p.Pro1729_Gln1730insGlnPro | |
| XM_011544659.2:c.5160_5165dup | XP_011542961.1:p.Pro1722_Gln1723insGlnPro | |
| XM_017013863.1:c.5049_5054dup | XP_016869352.1:p.Pro1685_Gln1686insGlnPro | |
| XM_017013864.2:c.5049_5054dup | XP_016869353.1:p.Pro1685_Gln1686insGlnPro | |
| XM_024447285.1:c.3621_3626dup | XP_024303053.1:p.Pro1209_Gln1210insGlnPro | |
| NM_006766.5:c.5049_5054dup MANE Select | NP_006757.2:p.Pro1685_Gln1686insGlnPro |