Linked Data
dbSNP Id:
rs755831648
gnomAD v2:
6-139694541-T-TGCCAGAGCCGCCGGGGGTGCTGCTGCC
gnomAD v3:
6-139373404-T-TGCCAGAGCCGCCGGGGGTGCTGCTGCC
gnomAD v4:
6-139373404-T-TGCCAGAGCCGCCGGGGGTGCTGCTGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373408_139373434dup , CM000668.2:g.139373408_139373434dup | GRCh38 |
| NC_000006.11:g.139694545_139694571dup , CM000668.1:g.139694545_139694571dup | GRCh37 |
| NC_000006.10:g.139736238_139736264dup | NCBI36 |
| NG_016169.1:g.6218_6244dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.514_540dup MANE Select | ENSP00000356623.2:p.Gly180_Ser181insGlySerSerThrProGlyGlySerG... | |
| ENST00000367651.3:c.514_540dup | ENSP00000356623.2:p.Gly180_Ser181insGlySerSerThrProGlyGlySerG... | |
| ENST00000536159.2:c.514_540dup | ENSP00000442831.1:p.Gly180_Ser181insGlySerSerThrProGlyGlySerG... | |
| ENST00000537332.2:c.529_555dup | ENSP00000444198.2:p.Gly185_Ser186insGlySerSerThrProGlyGlySerG... | |
| ENST00000618718.1:c.476+38_476+64dup | ENSP00000479918.1:n.476+38_476+64dup | |
| NM_001168388.2:c.514_540dup | NP_001161860.1:p.Gly180_Ser181insGlySerSerThrProGlyGlySerGly | |
| NM_001168389.2:c.529_555dup | NP_001161861.2:p.Gly185_Ser186insGlySerSerThrProGlyGlySerGly | |
| NM_006079.4:c.514_540dup | NP_006070.2:p.Gly180_Ser181insGlySerSerThrProGlyGlySerGly | |
| NM_006079.5:c.514_540dup MANE Select | NP_006070.2:p.Gly180_Ser181insGlySerSerThrProGlyGlySerGly | |
| NM_001168388.3:c.514_540dup | NP_001161860.1:p.Gly180_Ser181insGlySerSerThrProGlyGlySerGly | |
| NM_001168389.3:c.529_555dup | NP_001161861.2:p.Gly185_Ser186insGlySerSerThrProGlyGlySerGly |