Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39248061_39248062del , CM000681.2:g.39248061_39248062del | GRCh38 |
| NC_000019.9:g.39738701_39738702del , CM000681.1:g.39738701_39738702del | GRCh37 |
| NC_000019.8:g.44430541_44430542del | NCBI36 |
| NG_042193.1:g.1912_1913del | |
| NG_055295.1:g.5797_5798del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000606380.2:c.152-65_152-64del | ENSP00000476098.1:n.152-65_152-64del | |
| ENST00000610963.1:c.151-65_151-64del | ENSP00000481371.1:n.151-65_151-64del | |
| ENST00000616270.4:c.152-65_152-64del | ENSP00000480679.1:n.152-65_152-64del | |
| ENST00000634680.1:c.151+369_151+370del | ENSP00000489240.1:n.151+369_151+370del | |
| ENST00000634967.1:c.152-65_152-64del | ENSP00000489559.1:n.152-65_152-64del | |
| NR_074079.1:n.429-65_429-64del |