Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20989692_20989728del , CM000684.2:g.20989692_20989728del | GRCh38 |
| NC_000022.10:g.21343981_21344017del , CM000684.1:g.21343981_21344017del | GRCh37 |
| NC_000022.9:g.19673981_19674017del | NCBI36 |
| NG_034193.1:g.12424_12460del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.651+10_651+46del | ||
| ENST00000642151.1:c.482+10_482+46del | ||
| ENST00000644435.1:c.473+10_473+46del | ||
| ENST00000646124.2:c.651+10_651+46del | ||
| ENST00000646506.1:n.230+10_230+46del | ||
| ENST00000215739.12:c.651+10_651+46del | ||
| ENST00000414985.5:c.*217+10_*217+46del | ||
| ENST00000479606.5:n.797+10_797+46del | ||
| ENST00000480895.1:n.347+10_347+46del | ||
| ENST00000497716.5:n.34+10_34+46del | ||
| NM_006767.3:c.651+10_651+46del | ||
| NM_006767.4:c.651+10_651+46del |