Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15184295_15184450del , CM000681.2:g.15184295_15184450del | GRCh38 |
| NC_000019.9:g.15295106_15295261del , CM000681.1:g.15295106_15295261del | GRCh37 |
| NC_000019.8:g.15156106_15156261del | NCBI36 |
| NG_009819.1:g.21533_21688del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263388.7:c.2412_2566+1del | ||
| ENST00000263388.6:c.2412_2566+1del | ||
| ENST00000601011.1:c.2407+457_2407+612del | ENSP00000473138.1:n.2407+457_2407+612del | |
| NM_000435.2:c.2412_2566+1del | ||
| XM_005259924.3:c.2410+457_2410+612del | XP_005259981.1:n.2410+457_2410+612del | |
| XM_005259924.4:c.2410+457_2410+612del | XP_005259981.1:n.2410+457_2410+612del | |
| NM_000435.3:c.2412_2566+1del |