Linked Data
dbSNP Id:
rs780870084
gnomAD v3:
6-139373374-T-TGCTGCTGCCCGCGCCGCCGCCCGA
gnomAD v4:
6-139373374-T-TGCTGCTGCCCGCGCCGCCGCCCGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373384_139373407dup , CM000668.2:g.139373384_139373407dup | GRCh38 |
| NC_000006.11:g.139694521_139694544dup , CM000668.1:g.139694521_139694544dup | GRCh37 |
| NC_000006.10:g.139736214_139736237dup | NCBI36 |
| NG_016169.1:g.6251_6274dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.547_570dup MANE Select | ENSP00000356623.2:p.Ser190_Asn191insSerGlyGlyGlyAlaGlySerSer | |
| ENST00000367651.3:c.547_570dup | ENSP00000356623.2:p.Ser190_Asn191insSerGlyGlyGlyAlaGlySerSer | |
| ENST00000536159.2:c.547_570dup | ENSP00000442831.1:p.Ser190_Asn191insSerGlyGlyGlyAlaGlySerSer | |
| ENST00000537332.2:c.562_585dup | ENSP00000444198.2:p.Ser195_Asn196insSerGlyGlyGlyAlaGlySerSer | |
| ENST00000618718.1:c.476+71_477-78dup | ENSP00000479918.1:n.476+71_477-78dup | |
| NM_001168388.2:c.547_570dup | NP_001161860.1:p.Ser190_Asn191insSerGlyGlyGlyAlaGlySerSer | |
| NM_001168389.2:c.562_585dup | NP_001161861.2:p.Ser195_Asn196insSerGlyGlyGlyAlaGlySerSer | |
| NM_006079.4:c.547_570dup | NP_006070.2:p.Ser190_Asn191insSerGlyGlyGlyAlaGlySerSer | |
| NM_006079.5:c.547_570dup MANE Select | NP_006070.2:p.Ser190_Asn191insSerGlyGlyGlyAlaGlySerSer | |
| NM_001168388.3:c.547_570dup | NP_001161860.1:p.Ser190_Asn191insSerGlyGlyGlyAlaGlySerSer | |
| NM_001168389.3:c.562_585dup | NP_001161861.2:p.Ser195_Asn196insSerGlyGlyGlyAlaGlySerSer |