Linked Data
ClinVar Variation Id:
977317
ClinVar RCV Id:
RCV001254920
dbSNP Id:
rs10634555
gnomAD v2:
3-42251577-C-CGGAGGA
gnomAD v3:
3-42210085-C-CGGAGGA
gnomAD v4:
3-42210085-C-CGGAGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42210112_42210117dup , CM000665.2:g.42210112_42210117dup | GRCh38 |
| NC_000003.11:g.42251604_42251609dup , CM000665.1:g.42251604_42251609dup | GRCh37 |
| NC_000003.10:g.42226608_42226613dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327628.10:c.1963+127_1963+132dup MANE Select | ENSP00000328998.5:n.1963+127_1963+132dup | |
| ENST00000672026.1:c.1651+127_1651+132dup | ENSP00000500099.1:n.1651+127_1651+132dup | |
| ENST00000673621.2:c.2047+127_2047+132dup | ENSP00000500819.2:n.2047+127_2047+132dup | |
| ENST00000327628.9:c.1963+127_1963+132dup | ENSP00000328998.5:n.1963+127_1963+132dup | |
| ENST00000341421.7:c.1916_1921dup | ENSP00000340702.3:p.Glu640_Gly641insGluGlu | |
| ENST00000396175.5:c.1789+127_1789+132dup | ENSP00000379478.1:n.1789+127_1789+132dup | |
| ENST00000487159.5:c.1651+127_1651+132dup | ENSP00000486713.1:n.1651+127_1651+132dup | |
| ENST00000613405.4:c.1868_1873dup | ENSP00000483516.1:p.Glu624_Gly625insGluGlu | |
| NM_001042646.2:c.1963+127_1963+132dup | NP_001036111.1:n.1963+127_1963+132dup | |
| NM_001265608.1:c.2090_2095dup | NP_001252537.1:p.Glu698_Gly699insGluGlu | |
| NM_001265609.1:c.1868_1873dup | NP_001252538.1:p.Glu624_Gly625insGluGlu | |
| NM_014965.4:c.1916_1921dup | NP_055780.2:p.Glu640_Gly641insGluGlu | |
| XM_005264956.2:c.1900+190_1900+195dup | XP_005265013.1:n.1900+190_1900+195dup | |
| XM_005264957.2:c.1789+127_1789+132dup | XP_005265014.1:n.1789+127_1789+132dup | |
| XM_005264958.2:c.1741+127_1741+132dup | XP_005265015.1:n.1741+127_1741+132dup | |
| XM_005264959.2:c.1651+127_1651+132dup | XP_005265016.1:n.1651+127_1651+132dup | |
| XM_005264960.2:c.1963+127_1963+132dup | XP_005265017.1:n.1963+127_1963+132dup | |
| XM_005264962.3:c.1963+127_1963+132dup | XP_005265019.1:n.1963+127_1963+132dup | |
| XM_005264963.3:c.1900+190_1900+195dup | XP_005265020.1:n.1900+190_1900+195dup | |
| XM_006713028.2:c.1900+190_1900+195dup | XP_006713091.1:n.1900+190_1900+195dup | |
| XM_006713029.2:c.1963+127_1963+132dup | XP_006713092.1:n.1963+127_1963+132dup | |
| XM_006713030.2:c.1900+190_1900+195dup | XP_006713093.1:n.1900+190_1900+195dup | |
| XM_006713031.2:c.1900+190_1900+195dup | XP_006713094.1:n.1900+190_1900+195dup | |
| XM_011533487.1:c.2032+127_2032+132dup | XP_011531789.1:n.2032+127_2032+132dup | |
| XM_011533488.1:c.1963+127_1963+132dup | XP_011531790.1:n.1963+127_1963+132dup | |
| XM_011533489.1:c.1963+127_1963+132dup | XP_011531791.1:n.1963+127_1963+132dup | |
| NM_001349245.1:c.1588+190_1588+195dup | NP_001336174.1:n.1588+190_1588+195dup | |
| NM_001349246.1:c.1900+190_1900+195dup | NP_001336175.1:n.1900+190_1900+195dup | |
| NM_001349247.1:c.1963+127_1963+132dup | NP_001336176.1:n.1963+127_1963+132dup | |
| NM_001349248.1:c.1678+190_1678+195dup | NP_001336177.1:n.1678+190_1678+195dup | |
| NM_001349249.1:c.1741+127_1741+132dup | NP_001336178.1:n.1741+127_1741+132dup | |
| NR_146089.1:n.2010+190_2010+195dup | ||
| XM_005264962.4:c.1963+127_1963+132dup | XP_005265019.1:n.1963+127_1963+132dup | |
| XM_005264963.4:c.1900+190_1900+195dup | XP_005265020.1:n.1900+190_1900+195dup | |
| XM_006713029.3:c.1963+127_1963+132dup | XP_006713092.1:n.1963+127_1963+132dup | |
| XM_006713030.3:c.1900+190_1900+195dup | XP_006713093.1:n.1900+190_1900+195dup | |
| XM_006713031.4:c.1900+190_1900+195dup | XP_006713094.1:n.1900+190_1900+195dup | |
| XM_011533489.3:c.1963+127_1963+132dup | XP_011531791.1:n.1963+127_1963+132dup | |
| XM_017005906.1:c.2159_2164dup | XP_016861395.1:p.Glu721_Gly722insGluGlu | |
| XM_017005907.2:c.1916_1921dup | XP_016861396.1:p.Glu640_Gly641insGluGlu | |
| XM_017005908.1:c.1868_1873dup | XP_016861397.1:p.Glu624_Gly625insGluGlu | |
| XM_017005909.1:c.1778_1783dup | XP_016861398.1:p.Glu594_Gly595insGluGlu | |
| XM_017005911.1:c.1588+190_1588+195dup | XP_016861400.1:n.1588+190_1588+195dup | |
| XM_017005913.2:c.1900+190_1900+195dup | XP_016861402.1:n.1900+190_1900+195dup | |
| XM_024453400.1:c.2090_2095dup | XP_024309168.1:p.Glu698_Gly699insGluGlu | |
| XM_024453401.1:c.2090_2095dup | XP_024309169.1:p.Glu698_Gly699insGluGlu | |
| XM_024453402.1:c.1963+127_1963+132dup | XP_024309170.1:n.1963+127_1963+132dup | |
| XM_024453403.1:c.1900+190_1900+195dup | XP_024309171.1:n.1900+190_1900+195dup | |
| XM_024453404.1:c.1963+127_1963+132dup | XP_024309172.1:n.1963+127_1963+132dup | |
| XR_001740058.2:n.2017+127_2017+132dup | ||
| XR_001740059.2:n.1954+190_1954+195dup | ||
| XR_001740060.1:n.2422+190_2422+195dup | ||
| NM_001042646.3:c.1963+127_1963+132dup MANE Select | NP_001036111.1:n.1963+127_1963+132dup | |
| NM_001265608.2:c.2090_2095dup | NP_001252537.1:p.Glu698_Gly699insGluGlu | |
| NM_001349246.2:c.1900+190_1900+195dup | NP_001336175.1:n.1900+190_1900+195dup | |
| NM_001349247.2:c.1963+127_1963+132dup | NP_001336176.1:n.1963+127_1963+132dup | |
| NM_014965.5:c.1916_1921dup | NP_055780.2:p.Glu640_Gly641insGluGlu | |
| NM_001265609.2:c.1868_1873dup | NP_001252538.1:p.Glu624_Gly625insGluGlu |