Linked Data
dbSNP Id:
rs1332113440
gnomAD v2:
3-42251599-G-GGAGGAA
gnomAD v4:
3-42210107-G-GGAGGAA
MyVariant Identifiers:
chr3:g.42251599_42251600insGAGGAA (hg19)
chr3:g.42210107_42210108insGAGGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42210112_42210113insAGAGGA , CM000665.2:g.42210112_42210113insAGAGGA | GRCh38 |
| NC_000003.11:g.42251604_42251605insAGAGGA , CM000665.1:g.42251604_42251605insAGAGGA | GRCh37 |
| NC_000003.10:g.42226608_42226609insAGAGGA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327628.10:c.1963+127_1963+128insAGAGGA MANE Select | ENSP00000328998.5:n.1963+127_1963+128insAGAGGA | |
| ENST00000672026.1:c.1651+127_1651+128insAGAGGA | ENSP00000500099.1:n.1651+127_1651+128insAGAGGA | |
| ENST00000673621.2:c.2047+127_2047+128insAGAGGA | ENSP00000500819.2:n.2047+127_2047+128insAGAGGA | |
| ENST00000327628.9:c.1963+127_1963+128insAGAGGA | ENSP00000328998.5:n.1963+127_1963+128insAGAGGA | |
| ENST00000341421.7:c.1916_1917insAGAGGA | ENSP00000340702.3:p.Glu639_Glu640insGluGlu | |
| ENST00000396175.5:c.1789+127_1789+128insAGAGGA | ENSP00000379478.1:n.1789+127_1789+128insAGAGGA | |
| ENST00000487159.5:c.1651+127_1651+128insAGAGGA | ENSP00000486713.1:n.1651+127_1651+128insAGAGGA | |
| ENST00000613405.4:c.1868_1869insAGAGGA | ENSP00000483516.1:p.Glu623_Glu624insGluGlu | |
| NM_001042646.2:c.1963+127_1963+128insAGAGGA | NP_001036111.1:n.1963+127_1963+128insAGAGGA | |
| NM_001265608.1:c.2090_2091insAGAGGA | NP_001252537.1:p.Glu697_Glu698insGluGlu | |
| NM_001265609.1:c.1868_1869insAGAGGA | NP_001252538.1:p.Glu623_Glu624insGluGlu | |
| NM_014965.4:c.1916_1917insAGAGGA | NP_055780.2:p.Glu639_Glu640insGluGlu | |
| XM_005264956.2:c.1900+190_1900+191insAGAGGA | XP_005265013.1:n.1900+190_1900+191insAGAGGA | |
| XM_005264957.2:c.1789+127_1789+128insAGAGGA | XP_005265014.1:n.1789+127_1789+128insAGAGGA | |
| XM_005264958.2:c.1741+127_1741+128insAGAGGA | XP_005265015.1:n.1741+127_1741+128insAGAGGA | |
| XM_005264959.2:c.1651+127_1651+128insAGAGGA | XP_005265016.1:n.1651+127_1651+128insAGAGGA | |
| XM_005264960.2:c.1963+127_1963+128insAGAGGA | XP_005265017.1:n.1963+127_1963+128insAGAGGA | |
| XM_005264962.3:c.1963+127_1963+128insAGAGGA | XP_005265019.1:n.1963+127_1963+128insAGAGGA | |
| XM_005264963.3:c.1900+190_1900+191insAGAGGA | XP_005265020.1:n.1900+190_1900+191insAGAGGA | |
| XM_006713028.2:c.1900+190_1900+191insAGAGGA | XP_006713091.1:n.1900+190_1900+191insAGAGGA | |
| XM_006713029.2:c.1963+127_1963+128insAGAGGA | XP_006713092.1:n.1963+127_1963+128insAGAGGA | |
| XM_006713030.2:c.1900+190_1900+191insAGAGGA | XP_006713093.1:n.1900+190_1900+191insAGAGGA | |
| XM_006713031.2:c.1900+190_1900+191insAGAGGA | XP_006713094.1:n.1900+190_1900+191insAGAGGA | |
| XM_011533487.1:c.2032+127_2032+128insAGAGGA | XP_011531789.1:n.2032+127_2032+128insAGAGGA | |
| XM_011533488.1:c.1963+127_1963+128insAGAGGA | XP_011531790.1:n.1963+127_1963+128insAGAGGA | |
| XM_011533489.1:c.1963+127_1963+128insAGAGGA | XP_011531791.1:n.1963+127_1963+128insAGAGGA | |
| NM_001349245.1:c.1588+190_1588+191insAGAGGA | NP_001336174.1:n.1588+190_1588+191insAGAGGA | |
| NM_001349246.1:c.1900+190_1900+191insAGAGGA | NP_001336175.1:n.1900+190_1900+191insAGAGGA | |
| NM_001349247.1:c.1963+127_1963+128insAGAGGA | NP_001336176.1:n.1963+127_1963+128insAGAGGA | |
| NM_001349248.1:c.1678+190_1678+191insAGAGGA | NP_001336177.1:n.1678+190_1678+191insAGAGGA | |
| NM_001349249.1:c.1741+127_1741+128insAGAGGA | NP_001336178.1:n.1741+127_1741+128insAGAGGA | |
| NR_146089.1:n.2010+190_2010+191insAGAGGA | ||
| XM_005264962.4:c.1963+127_1963+128insAGAGGA | XP_005265019.1:n.1963+127_1963+128insAGAGGA | |
| XM_005264963.4:c.1900+190_1900+191insAGAGGA | XP_005265020.1:n.1900+190_1900+191insAGAGGA | |
| XM_006713029.3:c.1963+127_1963+128insAGAGGA | XP_006713092.1:n.1963+127_1963+128insAGAGGA | |
| XM_006713030.3:c.1900+190_1900+191insAGAGGA | XP_006713093.1:n.1900+190_1900+191insAGAGGA | |
| XM_006713031.4:c.1900+190_1900+191insAGAGGA | XP_006713094.1:n.1900+190_1900+191insAGAGGA | |
| XM_011533489.3:c.1963+127_1963+128insAGAGGA | XP_011531791.1:n.1963+127_1963+128insAGAGGA | |
| XM_017005906.1:c.2159_2160insAGAGGA | XP_016861395.1:p.Glu720_Glu721insGluGlu | |
| XM_017005907.2:c.1916_1917insAGAGGA | XP_016861396.1:p.Glu639_Glu640insGluGlu | |
| XM_017005908.1:c.1868_1869insAGAGGA | XP_016861397.1:p.Glu623_Glu624insGluGlu | |
| XM_017005909.1:c.1778_1779insAGAGGA | XP_016861398.1:p.Glu593_Glu594insGluGlu | |
| XM_017005911.1:c.1588+190_1588+191insAGAGGA | XP_016861400.1:n.1588+190_1588+191insAGAGGA | |
| XM_017005913.2:c.1900+190_1900+191insAGAGGA | XP_016861402.1:n.1900+190_1900+191insAGAGGA | |
| XM_024453400.1:c.2090_2091insAGAGGA | XP_024309168.1:p.Glu697_Glu698insGluGlu | |
| XM_024453401.1:c.2090_2091insAGAGGA | XP_024309169.1:p.Glu697_Glu698insGluGlu | |
| XM_024453402.1:c.1963+127_1963+128insAGAGGA | XP_024309170.1:n.1963+127_1963+128insAGAGGA | |
| XM_024453403.1:c.1900+190_1900+191insAGAGGA | XP_024309171.1:n.1900+190_1900+191insAGAGGA | |
| XM_024453404.1:c.1963+127_1963+128insAGAGGA | XP_024309172.1:n.1963+127_1963+128insAGAGGA | |
| XR_001740058.2:n.2017+127_2017+128insAGAGGA | ||
| XR_001740059.2:n.1954+190_1954+191insAGAGGA | ||
| XR_001740060.1:n.2422+190_2422+191insAGAGGA | ||
| NM_001042646.3:c.1963+127_1963+128insAGAGGA MANE Select | NP_001036111.1:n.1963+127_1963+128insAGAGGA | |
| NM_001265608.2:c.2090_2091insAGAGGA | NP_001252537.1:p.Glu697_Glu698insGluGlu | |
| NM_001349246.2:c.1900+190_1900+191insAGAGGA | NP_001336175.1:n.1900+190_1900+191insAGAGGA | |
| NM_001349247.2:c.1963+127_1963+128insAGAGGA | NP_001336176.1:n.1963+127_1963+128insAGAGGA | |
| NM_014965.5:c.1916_1917insAGAGGA | NP_055780.2:p.Glu639_Glu640insGluGlu | |
| NM_001265609.2:c.1868_1869insAGAGGA | NP_001252538.1:p.Glu623_Glu624insGluGlu |