Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574351_47574423del , CM000685.2:g.47574351_47574423del | GRCh38 |
| NC_000023.10:g.47433750_47433822del , CM000685.1:g.47433750_47433822del | GRCh37 |
| NC_000023.9:g.47318694_47318766del | NCBI36 |
| NG_008437.1:g.50438_50510del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1564_1636del MANE Select | ENSP00000295987.7:p.Ala522ProfsTer? | |
| ENST00000340666.5:c.1564_1636del | ENSP00000343206.4:p.Ala522ProfsTer? | |
| ENST00000640721.1:c.70+268_70+340del | ENSP00000492857.1:n.70+268_70+340del | |
| ENST00000295987.11:c.1564_1636del | ENSP00000295987.7:p.Ala522ProfsTer? | |
| ENST00000340666.4:c.1564_1636del | ENSP00000343206.4:p.Ala522ProfsTer? | |
| NM_006950.3:c.1564_1636del MANE Select | NP_008881.2:p.Ala522ProfsTer? | |
| NM_133499.2:c.1564_1636del | NP_598006.1:p.Ala522ProfsTer? |