Linked Data
dbSNP Id:
rs1576469585
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945777_138945778insCCACCA , CM000665.2:g.138945777_138945778insCCACCA | GRCh38 |
| NC_000003.11:g.138664619_138664620insCCACCA , CM000665.1:g.138664619_138664620insCCACCA | GRCh37 |
| NC_000003.10:g.140147309_140147310insCCACCA | NCBI36 |
| NG_012454.1:g.6363_6364insTGGTGG | |
| NG_029796.1:g.3544_3545insCCACCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.945_946insTGGTGG MANE Select | ENSP00000497217.1:p.Ala315_Ala316insTrpTrp | |
| ENST00000330315.3:c.945_946insTGGTGG | ENSP00000333188.3:p.Ala315_Ala316insTrpTrp | |
| NM_023067.3:c.945_946insTGGTGG | NP_075555.1:p.Ala315_Ala316insTrpTrp | |
| NM_023067.4:c.945_946insTGGTGG MANE Select | NP_075555.1:p.Ala315_Ala316insTrpTrp |