Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256281_133256284delinsATAG , CM000671.2:g.133256281_133256284delinsATAG | GRCh38 |
| NC_000009.11:g.136131668_136131671delinsATAG , CM000671.1:g.136131668_136131671delinsATAG | GRCh37 |
| NC_000009.10:g.135121489_135121492delinsATAG | NCBI36 |
| NG_006669.1:g.21384_21387delinsCTAT | |
| NG_006669.2:g.23932_23935delinsCTAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.476_479delinsCTAT | ||
| ENST00000647353.1:n.54-5132_54-5129delinsCTAT | ||
| ENST00000651471.1:n.402_405delinsCTAT | ||
| ENST00000679909.1:c.28+18878_28+18881delinsCTAT | ENSP00000506089.1:n.28+18878_28+18881deli... | |
| ENST00000453660.3:n.458_461delinsCTAT | ||
| ENST00000538324.2:c.444_447delinsCTAT | ENSP00000483018.1:p.Tyr148= | |
| ENST00000611156.4:c.444_447delinsCTAT | ENSP00000483265.1:p.Tyr148= | |
| NM_020469.2:c.447_450delinsCTAT | NP_065202.2:p.Tyr149= | |
| NM_020469.3:c.447_450delinsCTAT | NP_065202.2:p.Tyr149= |