Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141847_10149786del , CM000665.2:g.10141847_10149786del | GRCh38 |
| NC_000003.11:g.10183531_10191470del , CM000665.1:g.10183531_10191470del | GRCh37 |
| NC_000003.10:g.10158531_10166470del | NCBI36 |
| NG_008212.3:g.5213_13152del , LRG_322:g.5213_13152del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.-1_*141-1del | ||
| ENST00000696153.1:c.-1_575-1del | ||
| ENST00000256474.3:c.-1_464-1del | ||
| ENST00000256474.2:c.-1_464-1del | ||
| ENST00000345392.2:c.-1_341-1del | ||
| NM_000551.3:c.-1_464-1del , LRG_322t1:c.-1_464-1del | ||
| NM_198156.2:c.-1_341-1del | ||
| NM_001354723.1:c.-1_*18-1del | ||
| NM_000551.4:c.-1_464-1del | ||
| NM_001354723.2:c.-1_*18-1del | ||
| NM_198156.3:c.-1_341-1del |