Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028800_52028801del , CM000666.2:g.52028800_52028801del | GRCh38 |
| NC_000004.11:g.52894966_52894967del , CM000666.1:g.52894966_52894967del | GRCh37 |
| NC_000004.10:g.52589723_52589724del | NCBI36 |
| NG_008891.1:g.14520_14521del , LRG_204:g.14520_14521del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381431.10:c.551_552del MANE Select | ENSP00000370839.6:p.Tyr184Ter | |
| ENST00000381431.9:c.551_552del | ENSP00000370839.5:p.Tyr184Ter | |
| ENST00000506357.5:c.634_635del | ||
| NM_000232.4:c.551_552del , LRG_204t1:c.551_552del | NP_000223.1:p.Tyr184Ter | |
| XM_006714049.2:c.254_255del | XP_006714112.1:p.Tyr85Ter | |
| XM_011534403.1:c.341_342del | XP_011532705.1:p.Tyr114Ter | |
| XM_011534404.1:c.254_255del | XP_011532706.1:p.Tyr85Ter | |
| NM_000232.5:c.551_552del MANE Select | NP_000223.1:p.Tyr184Ter |