Linked Data
dbSNP Id:
rs1564899677
gnomAD v2:
11-6340471-A-AGGCTCTGGCTCCAGCGTG
gnomAD v4:
11-6319241-A-AGGCTCTGGCTCCAGCGTG
MyVariant Identifiers:
chr11:g.6340471_6340472insGGCTCTGGCTCCAGCGTG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319247_6319264dup , CM000673.2:g.6319247_6319264dup | GRCh38 |
| NC_000011.9:g.6340477_6340494dup , CM000673.1:g.6340477_6340494dup | GRCh37 |
| NC_000011.8:g.6297053_6297070dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.690_707dup MANE Select | ENSP00000307292.3:p.Pro236_Pro237insThrLeuGluProGluPro | |
| ENST00000303927.3:c.690_707dup | ENSP00000307292.3:p.Pro236_Pro237insThrLeuGluProGluPro | |
| ENST00000524852.1:n.476_493dup | ||
| ENST00000530979.1:c.786_803dup | ENSP00000432047.1:p.Pro268_Pro269insThrLeuGluProGluPro | |
| ENST00000532354.1:n.712_729dup | ||
| NM_145040.2:c.690_707dup | NP_659477.2:p.Pro236_Pro237insThrLeuGluProGluPro | |
| XR_930997.1:n.720+1027_720+1044dup | ||
| XR_242848.4:n.107_124dup | ||
| NM_145040.3:c.690_707dup MANE Select | NP_659477.2:p.Pro236_Pro237insThrLeuGluProGluPro |