Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133274213_133274225del , CM000671.2:g.133274213_133274225del | GRCh38 |
| NC_000009.11:g.136149629_136149641del , CM000671.1:g.136149629_136149641del | GRCh37 |
| NC_000009.10:g.135139450_135139462del | NCBI36 |
| NG_006669.1:g.3413_3425del | |
| NG_006669.2:g.5993_6005del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.58+940_58+952del | ||
| ENST00000647353.1:n.53+940_53+952del | ||
| ENST00000651471.1:n.63+1740_63+1752del | ||
| ENST00000679909.1:c.28+940_28+952del | ENSP00000506089.1:n.28+940_28+952del | |
| ENST00000453660.3:n.40+940_40+952del | ||
| ENST00000538324.2:c.28+940_28+952del | ENSP00000483018.1:n.28+940_28+952del | |
| ENST00000611156.4:c.28+940_28+952del | ENSP00000483265.1:n.28+940_28+952del | |
| NM_020469.2:c.28+940_28+952del | NP_065202.2:n.28+940_28+952del | |
| NM_020469.3:c.28+940_28+952del | NP_065202.2:n.28+940_28+952del |