Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352768_38352791del , CM000685.2:g.38352768_38352791del | GRCh38 |
| NC_000023.10:g.38212021_38212044del , CM000685.1:g.38212021_38212044del | GRCh37 |
| NC_000023.9:g.38096965_38096988del | NCBI36 |
| NG_008471.1:g.5286_5309del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.72_77+18del | ||
| ENST00000643344.1:c.72_77+18del | ||
| ENST00000039007.4:c.72_77+18del | ||
| ENST00000465127.1:c.172-313353_172-313330del | ENSP00000417050.1:n.172-313353_172-313330... | |
| ENST00000488812.1:n.164_169+18del | ||
| NM_000531.5:c.72_77+18del | ||
| XM_017029556.1:c.72_77+18del | ||
| NM_000531.6:c.72_77+18del |