Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028869_135028878delinsCAGGCTGGCT , CM000667.2:g.135028869_135028878delinsCAGGCTGGCT | GRCh38 |
| NC_000005.9:g.134364559_134364568delinsCAGGCTGGCT , CM000667.1:g.134364559_134364568delinsCAGGCTGGCT | GRCh37 |
| NC_000005.8:g.134392458_134392467delinsCAGGCTGGCT | NCBI36 |
| NG_012114.1:g.10397_10406delinsAGCCAGCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.846_855delinsAGCCAGCCTG MANE Select | ENSP00000265340.6:p.Leu282= | |
| ENST00000265340.11:c.846_855delinsAGCCAGCCTG | ENSP00000265340.6:p.Leu282= | |
| ENST00000506438.5:c.846_855delinsAGCCAGCCTG | ENSP00000427542.1:p.Leu282= | |
| NM_002653.4:c.846_855delinsAGCCAGCCTG | NP_002644.4:p.Leu282= | |
| NM_002653.5:c.846_855delinsAGCCAGCCTG MANE Select | NP_002644.4:p.Leu282= |