Linked Data
dbSNP Id:
rs763059366
gnomAD v3:
11-6319247-T-TGGCTCCAGCGTG
gnomAD v4:
11-6319247-T-TGGCTCCAGCGTG
MyVariant Identifiers:
chr11:g.6340477_6340478insGGCTCCAGCGTG (hg19)
chr11:g.6319247_6319248insGGCTCCAGCGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319258_6319269dup , CM000673.2:g.6319258_6319269dup | GRCh38 |
| NC_000011.9:g.6340488_6340499dup , CM000673.1:g.6340488_6340499dup | GRCh37 |
| NC_000011.8:g.6297064_6297075dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.690_701dup MANE Select | ENSP00000307292.3:p.Pro234_Glu235insThrLeuGluPro | |
| ENST00000303927.3:c.690_701dup | ENSP00000307292.3:p.Pro234_Glu235insThrLeuGluPro | |
| ENST00000524852.1:n.476_487dup | ||
| ENST00000530979.1:c.786_797dup | ENSP00000432047.1:p.Pro266_Glu267insThrLeuGluPro | |
| ENST00000532354.1:n.712_723dup | ||
| NM_145040.2:c.690_701dup | NP_659477.2:p.Pro234_Glu235insThrLeuGluPro | |
| XR_930997.1:n.720+1038_720+1049dup | ||
| XR_242848.4:n.118_129dup | ||
| NM_145040.3:c.690_701dup MANE Select | NP_659477.2:p.Pro234_Glu235insThrLeuGluPro |